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Abdou, M T

Kloeckener-Gruissem, B; Bartholdi, D; Abdou, M T; Zimmermann, D R; Berger, W (2006). Identification of the genetic defect in the original Wagner syndrome family. Molecular Vision, (12):350-355.

Abeliovich, D

Banin, E; Mizrahi-Meissonnier, L; Neis, R; Silverstein, S; Magyar, I; Abeliovich, D; Roepman, R; Berger, W; Rosenberg, T; Sharon, D (2007). A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. American Journal of Medical Genetics. Part A, 143A(11):1150-1158.

Abplanalp, Jeanette

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Achermann, Peter

Holst, Sebastian C; Bersagliere, Alessia; Bachmann, Valérie; Berger, Wolfgang; Achermann, Peter; Landolt, Hans-Peter (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. Journal of Neuroscience, 2(34):566-573.

Ackermann-Liebrich, U

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Imboden, M; Schwartz, J; Schindler, C; Curjuric, I; Berger, W; Liu, S L; Russi, E W; Ackermann-Liebrich, U; Rochat, T; Probst-Hensch, N M (2009). Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect, 117(9):1420-1427.

Senn, O; Russi, E W; Schindler, C; Imboden, M; von Eckardstein, A; Brändli, O; Zemp, E; Ackermann-Liebrich, U; Berger, W; Rochat, T; Luisetti, M; Probst-Hensch, N M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.

Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.

Imboden, M; Downs, S H; Senn, O; Matyas, G; Brändli, O; Russi, E W; Schindler, C; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2007). Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respiratory Research, 8:2.

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Imboden, M; Nicod, L; Nieters, A; Glaus, E; Matyas, G; Bircher, A J; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2006). The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clinical and Experimental Allergy, 36(2):211-8.

Adam, M

Rétey, J V; Adam, M; Khatami, R; Luhmann, U F O; Jung, H H; Berger, W; Landolt, H P (2007). A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clinical Pharmacology and Therapeutics, 81(5):692-698.

Addor, M C

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Ader, M

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Akdis, Deniz

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace:Epub ahead of print.

Akhmedov, A

Kurz, D J; Kloeckener-Gruissem, B; Akhmedov, A; Eberli, F R; Bühler, I; Berger, W; Bertel, O; Lüscher, T F (2006). Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(6):e114-e117.

Al-Qahtani, Abdullah A

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Albano, Giuseppe

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Ali, Manir

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Alkadhi, H

Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.

Alonso, S

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Altmueller, J

Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.

Altmüller, Janine

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Amstutz, C

Kloeckener-Gruissem, B; Amstutz, C (2009). VCAN-Related Vitreoretinopathy. GeneReviews.

Anderegg, Manuel

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Antonio, A

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Antonio, Aline

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Arand, M

Bodenmann, S; Xu, S; Luhmann, U; Arand, M; Berger, W; Jung, H; Landolt, H P (2009). Pharmacogenetics of Modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clinical Pharmacology and Therapeutics, 85(3):296-304.

Aregger, F

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Argun, M

Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330.

Arnold, E

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Arnold, M

Biebinger, R; Arnold, M; Koss, M; Kloeckener-Gruissem, B; Langhans, W; Hurrell, R F; Zimmermann, M B (2006). Effect of concurrent vitamin A and iodine deficiencies on the thyroid-pituitary axis in rats. Thyroid, 16(10):961-965.

Audier, Claire

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Audo, I

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Audo, Isabelle

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Aytekin, C

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Azzarello-Burri, S

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Azzarello-Burri, Silvia

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Bach, M

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Poloschek, C M; Kloeckener-Gruissem, B; Hansen, L L; Bach, M; Berger, W (2008). Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Investigative Ophthalmology and Visual Science, 49(9):4096-104.

Bachmann, V

Bachmann, V; Klaus, F; Bodenmann, S; Schäfer, N; Brugger, P; Huber, S; Berger, W; Landolt, H P (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cerebral Cortex, 22(4):962-970.

Bachmann, Valérie

Holst, Sebastian C; Bersagliere, Alessia; Bachmann, Valérie; Berger, Wolfgang; Achermann, Peter; Landolt, Hans-Peter (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. Journal of Neuroscience, 2(34):566-573.

Bachmann, Valérie; Klein, Carina; Bodenmann, S; Schäfer, N; Berger, W; Brugger, P; Landolt, H P (2012). The BDNF Val66Met polymorphisms modulates sleep intensity: EEG frequency- and state-specificity. Sleep, 35(3):335-344.

Badziag, B

Jamsheer, A; Henggeler, C; Wierzba, J; Loeys, B; De Paepe, A; Stheneur, C H; Badziag, B; Matuszewska, K; Mátyás, G; Latos-Bielenska, A (2009). A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. Journal of Applied Genetics, 50(4):405-410.

Baehr, Luzy

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Bahadori, R

Bahadori, R; Biehlmaier, O; Zeitz, C; Labhart, T; Makhankov, Y V; Forster, U; Gesemann, M; Berger, W; Neuhauss, S C F (2006). Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. European Journal of Neuroscience, 24(6):1664-1674.

Bahr, Angela

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace:Epub ahead of print.

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Wilson, Anthony B; Whittington, Camilla M; Bahr, Angela (2014). High intralocus variability and interlocus recombination promote immunological diversity in a minimal major histocompatibility system. BMC Evolutionary Biology, 14(273):online.

Banin, E

Banin, E; Mizrahi-Meissonnier, L; Neis, R; Silverstein, S; Magyar, I; Abeliovich, D; Roepman, R; Berger, W; Rosenberg, T; Sharon, D (2007). A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. American Journal of Medical Genetics. Part A, 143A(11):1150-1158.

Banin, Eyal

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Barthelmes, D

Oczos, J; Grimm, C; Barthelmes, D; Sutter, F; Menghini, M; Kloeckener-Gruissem, B; Berger, W (2013). Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age, 35(5):1651-1662.

Kloeckener-Gruissem, B; Barthelmes, D; Labs, S; Schindler, C; Kurz-Levin, M; Michels, S; Fleischhauer, J; Berger, W; Sutter, F; Menghini, M (2011). Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Investigative Ophthalmology and Visual Science, 52(7):4694-4702.

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Barthelmes, Daniel

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Menghini, Moreno; Kloeckener-Gruissem, Barbara; Fleischhauer, Johannes; Kurz-Levin, Malaika M; Sutter, Florian K P; Berger, Wolfgang; Barthelmes, Daniel (2012). Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS ONE, 7(7):e42014.

Bartholdi, D

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Kloeckener-Gruissem, B; Bartholdi, D; Abdou, M T; Zimmermann, D R; Berger, W (2006). Identification of the genetic defect in the original Wagner syndrome family. Molecular Vision, (12):350-355.

Barthélémy, Jean Claude

Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.

Bartsch, Christine

Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine, 130(4):1023.

Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Post-mortem whole-exome sequencing(WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death(SUD) cases. International journal of legal medicine, 130(4):1011-1021.

Batmanabane, Vaishnavi

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Baumer, A

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Baumgartner, C

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, J I; Baumgartner, D (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.

Baumgartner, D; Baumgartner, C; Schermer, E; Engl, G; Schweigmann, U; Matyas, G; Steinmann, B; Stein, J I (2006). Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. Journal of Thoracic and Cardiovascular Surgery, 132(4):811-819.

Baumgartner, D

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, J I; Baumgartner, D (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.

Baumgartner, D; Baumgartner, C; Schermer, E; Engl, G; Schweigmann, U; Matyas, G; Steinmann, B; Stein, J I (2006). Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. Journal of Thoracic and Cardiovascular Surgery, 132(4):811-819.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Becker, M

Zweifel, S A; Maygar, I; Berger, W; Tschuor, P; Becker, M; Michels, S (2012). Multimodal imaging of autosomal dominant drusen. Klinische Monatsblätter für Augenheilkunde, 229(4):399-402.

Becker, N

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Benet-Pages, Anna

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Berger, Lieselotte

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Berger, W

Gerth-Kahlert, C; Seebauer, B; Dold, S; Hanson, J V M; Wildberger, H; Spörri, A; van Waes, H; Berger, W (2015). Intra-familial phenotype variability in patients with Jalili syndrome. Eye, 29(5):712-716.

Oczos, J; Sutter, I; Kloeckener-Gruissem, B; Berger, W; Riwanto, M; Rentsch, K; Hornemann, T; von Eckardstein, A; Grimm, C (2014). Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Investigative Ophthalmology & Visual Science [IOVS], 55(8):4714-4727.

Schmid, F; Hiller, T; Korner, G; Glaus, E; Berger, W; Neidhardt, J (2013). A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Human Gene Therapy, 32(7):815-824.

Kloeckener-Gruissem, B; Neidhardt, J; Magyar, I; Plauchu, H; Zech, J C; Morlé, L; Palmer-Smith, S M; MacDonald, M J; Nas, V; Fry, A E; Berger, W (2013). Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. European Journal of Human Genetics, 21(3):352-356.

Oczos, J; Grimm, C; Barthelmes, D; Sutter, F; Menghini, M; Kloeckener-Gruissem, B; Berger, W (2013). Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age, 35(5):1651-1662.

Bachmann, Valérie; Klein, Carina; Bodenmann, S; Schäfer, N; Berger, W; Brugger, P; Landolt, H P (2012). The BDNF Val66Met polymorphisms modulates sleep intensity: EEG frequency- and state-specificity. Sleep, 35(3):335-344.

Bachmann, V; Klaus, F; Bodenmann, S; Schäfer, N; Brugger, P; Huber, S; Berger, W; Landolt, H P (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cerebral Cortex, 22(4):962-970.

Zweifel, S A; Maygar, I; Berger, W; Tschuor, P; Becker, M; Michels, S (2012). Multimodal imaging of autosomal dominant drusen. Klinische Monatsblätter für Augenheilkunde, 229(4):399-402.

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Glaus, E; Schmid, F; Da Costa, R; Berger, W; Neidhardt, J (2011). Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Molecular Therapy, 19(5):936-941.

Kloeckener-Gruissem, B; Barthelmes, D; Labs, S; Schindler, C; Kurz-Levin, M; Michels, S; Fleischhauer, J; Berger, W; Sutter, F; Menghini, M (2011). Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Investigative Ophthalmology and Visual Science, 52(7):4694-4702.

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Berger, W; Kloeckener-Gruissem, B; Neidhardt, J (2010). The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research, 29(5):335-375.

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Hersberger, M; Thun, G A; Imboden, M; Brandstätter, A; Waechter, V; Summerer, M; Schmid-Grendelmeier, P; Bircher, A; Rohrer, L; Berger, W; Russi, E W; Rochat, T; Kronenberg, F; Probst-Hensch, N (2010). Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Human Immunology, 71(11):1154-1160.

Zuercher, J; Neidhardt, J; Magyar, I; Labs, S; Moore, A; Tanner, F C; Waseem, N; Schorderet, D F; Munier, F L; Bhattacharya, S; Berger, W; Kloeckener-Gruissem, B (2010). Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology and Visual Science, 51(7):3354-3361.

Schmid, F; Glaus, E; Kloeckener-Gruissem, B; Berger, W; Neidhardt, J (2010). Mutation- and Tissue-Specific Alterations of RPGR Transcripts. Investigative Ophthalmology and Visual Science, 51(3):1628-1635.

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Imboden, M; Schwartz, J; Schindler, C; Curjuric, I; Berger, W; Liu, S L; Russi, E W; Ackermann-Liebrich, U; Rochat, T; Probst-Hensch, N M (2009). Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect, 117(9):1420-1427.

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Leroy, B P; Budde, B; Wittmer, M; De Baere, E; Berger, W; Zeitz, C (2009). A common NYX mutation in Flemish patients with X-linked CSNB. British Journal of Ophthalmology, 93(5):692-696.

Bodenmann, S; Xu, S; Luhmann, U; Arand, M; Berger, W; Jung, H; Landolt, H P (2009). Pharmacogenetics of Modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clinical Pharmacology and Therapeutics, 85(3):296-304.

Macas, E; Matyas, G; Reuge, P; Berger, W; Imthurn, B (2009). Polar body biopsy for Curschmann–Steinert disease and successful pregnancy following embryo vitrification. Reproductive BioMedicine Online, 18(6):815-820.

Schäfer, N F; Luhmann, U F O; Feil, S; Berger, W (2009). Differential gene expression in Ndph knockout mice in retinal development. Investigative Ophthalmology and Visual Science, 50(2):906-916.

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.

Berger, W (2008). Mouse models of norrie disease. In: Chalupa, L M; Williams, R W. Eye, Retina, and Visual System of the Mouse. Cumberland: Harvard University Press, 527-537.

Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Senn, O; Russi, E W; Schindler, C; Imboden, M; von Eckardstein, A; Brändli, O; Zemp, E; Ackermann-Liebrich, U; Berger, W; Rochat, T; Luisetti, M; Probst-Hensch, N M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.

Imboden, M; Rochat, T; Brutsche, M; Schindler, C; Downs, S H; Gerbase, M W; Berger, W; Probst-Hensch, N M (2008). Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax, 63(4):322-8.

Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.

Zeitz, C; Gross, A K; Leifert, D; Kloeckener-Gruissem, B; McAlear, S D; Lemke, J; Neidhardt, G; Berger, W (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Investigative Ophthalmology and Visual Science, 49(9):4105-4114.

Kloeckener-Gruissem, B; Vandekerckhove, K; Nürnberg, G; Neidhardt, J; Zeitz, C; Nürnberg, P; Schipper, I; Berger, W (2008). Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. American Journal of Human Genetics, 82(3):772-779.

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Poloschek, C M; Kloeckener-Gruissem, B; Hansen, L L; Bach, M; Berger, W (2008). Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Investigative Ophthalmology and Visual Science, 49(9):4096-104.

Luhmann, U F O; Neidhardt, J; Kloeckener-Gruissem, B; Schäfer, N F; Glaus, E; Feil, S; Berger, W (2008). Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. European Journal of Neuroscience, 27(10):2619-2628.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Rétey, J V; Adam, M; Khatami, R; Luhmann, U F O; Jung, H H; Berger, W; Landolt, H P (2007). A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clinical Pharmacology and Therapeutics, 81(5):692-698.

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; Berger, W (2007). Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Human Mutation, 28(8):771-80.

Imboden, M; Downs, S H; Senn, O; Matyas, G; Brändli, O; Russi, E W; Schindler, C; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2007). Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respiratory Research, 8:2.

Banin, E; Mizrahi-Meissonnier, L; Neis, R; Silverstein, S; Magyar, I; Abeliovich, D; Roepman, R; Berger, W; Rosenberg, T; Sharon, D (2007). A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. American Journal of Medical Genetics. Part A, 143A(11):1150-1158.

Cremers, F P M; et al; Fleischhauer, J C; Berger, W (2007). Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics, 44(2):153-60.

Bahadori, R; Biehlmaier, O; Zeitz, C; Labhart, T; Makhankov, Y V; Forster, U; Gesemann, M; Berger, W; Neuhauss, S C F (2006). Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. European Journal of Neuroscience, 24(6):1664-1674.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Kurz, D J; Kloeckener-Gruissem, B; Akhmedov, A; Eberli, F R; Bühler, I; Berger, W; Bertel, O; Lüscher, T F (2006). Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(6):e114-e117.

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Kloeckener-Gruissem, B; Bartholdi, D; Abdou, M T; Zimmermann, D R; Berger, W (2006). Identification of the genetic defect in the original Wagner syndrome family. Molecular Vision, (12):350-355.

Wycisk, K A; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.

Zeitz, C; et al; Berger, W (2006). Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. American Journal of Human Genetics, 79(4):657-667.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Imboden, M; Nicod, L; Nieters, A; Glaus, E; Matyas, G; Bircher, A J; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2006). The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clinical and Experimental Allergy, 36(2):211-8.

Wollmann, G; et al; Berger, W (2006). Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. Vision Research, 46(5):688-698.

Berger, Wolfgang

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Urry, Emily; Jetter, Alexander; Holst, Sebastian C; Berger, Wolfgang; Spinas, Giatgen A; Langhans, Wolfgang; Landolt, Hans-Peter (2017). A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. Journal of Psychopharmacology, 31(2):233-242.

Kloeckener-Gruissem, Barbara; Dours-Zimmermann, Maria T; Skosyrski, Sergej; Brunner, Sandra; Mjaatvedt, Corey H; Zimmermann, Dieter R; Rüther, Klaus; Berger, Wolfgang (2016). A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters:20160500004.

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace:Epub ahead of print.

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine, 130(4):1023.

Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Post-mortem whole-exome sequencing(WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death(SUD) cases. International journal of legal medicine, 130(4):1011-1021.

Da Costa, Romain; Glaus, Esther; Tiwari, Amit; Kloeckener-Gruissem, Barbara; Berger, Wolfgang; Neidhardt, John (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Therapy, 22(5):413-420.

Haghighi, Alireza; Tiwari, Amit; Piri, Niloofar; Nürnberg, Gudrun; Saleh-Gohari, Nasrollah; Haghighi, Amirreza; Neidhardt, John; Nürnberg, Peter; Berger, Wolfgang (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE, 9(11):e112747.

Holst, Sebastian C; Bersagliere, Alessia; Bachmann, Valérie; Berger, Wolfgang; Achermann, Peter; Landolt, Hans-Peter (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. Journal of Neuroscience, 2(34):566-573.

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Bukowy-Bieryllo, Zuzanna; Zietkiewicz, Ewa; Loges, Niki Tomas; Wittmer, Mariana; Geremek, Maciej; Olbrich, Heike; Fliegauf, Manfred; Voelkel, Katarzyna; Rutkiewicz, Ewa; Rutland, Jonathan; Morgan, Lucy; Pogorzelski, Adrzej; Martin, James; Haan, Eric; Berger, Wolfgang; Omran, Heymut; Witt, Michal (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48(4):352-363.

Thun, Gian Andri; Imboden, Medea; Berger, Wolfgang; Rochat, Thierry; Probst-Hensch, Nicole M (2013). The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study. Journal of Asthma, 50(2):147-154.

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Menghini, Moreno; Kloeckener-Gruissem, Barbara; Fleischhauer, Johannes; Kurz-Levin, Malaika M; Sutter, Florian K P; Berger, Wolfgang; Barthelmes, Daniel (2012). Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS ONE, 7(7):e42014.

Zuercher, Jurian; Fritzsche, Martin; Feil, Silke; Mohn, Lucas; Berger, Wolfgang (2012). Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Human Molecular Genetics, 21(12):2619-2630.

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Bernd, A

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Bernd, Antje

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Bernreuther, C

Meier, I D; Bernreuther, C; Tilling, T; Neidhardt, J; Wong, Y W; Schulze, C; Streichert, T; Schachner, M (2010). Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression. FASEB Journal, 24(6):1714-1724.

Bersagliere, Alessia

Holst, Sebastian C; Bersagliere, Alessia; Bachmann, Valérie; Berger, Wolfgang; Achermann, Peter; Landolt, Hans-Peter (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. Journal of Neuroscience, 2(34):566-573.

Bertel, O

Kurz, D J; Kloeckener-Gruissem, B; Akhmedov, A; Eberli, F R; Bühler, I; Berger, W; Bertel, O; Lüscher, T F (2006). Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(6):e114-e117.

Bettschart, R W

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Bhattacharya, S

Zuercher, J; Neidhardt, J; Magyar, I; Labs, S; Moore, A; Tanner, F C; Waseem, N; Schorderet, D F; Munier, F L; Bhattacharya, S; Berger, W; Kloeckener-Gruissem, B (2010). Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology and Visual Science, 51(7):3354-3361.

Bhattacharya, S S

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Bhattacharya, Shomi S

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Biebinger, R

Biebinger, R; Arnold, M; Koss, M; Kloeckener-Gruissem, B; Langhans, W; Hurrell, R F; Zimmermann, M B (2006). Effect of concurrent vitamin A and iodine deficiencies on the thyroid-pituitary axis in rats. Thyroid, 16(10):961-965.

Biehlmaier, O

Bahadori, R; Biehlmaier, O; Zeitz, C; Labhart, T; Makhankov, Y V; Forster, U; Gesemann, M; Berger, W; Neuhauss, S C F (2006). Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. European Journal of Neuroscience, 24(6):1664-1674.

Bier, Andrea

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Bircher, A

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Hersberger, M; Thun, G A; Imboden, M; Brandstätter, A; Waechter, V; Summerer, M; Schmid-Grendelmeier, P; Bircher, A; Rohrer, L; Berger, W; Russi, E W; Rochat, T; Kronenberg, F; Probst-Hensch, N (2010). Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Human Immunology, 71(11):1154-1160.

Bircher, A J

Imboden, M; Nicod, L; Nieters, A; Glaus, E; Matyas, G; Bircher, A J; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2006). The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clinical and Experimental Allergy, 36(2):211-8.

Bircher, Aj

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Biskup, Saskia

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Blasco, Hélène

Cosson, Laure; Toutain, Annick; Simard, Gilles; Kulik, Willem; Matyas, Gabor; Guichet, Agnès; Blasco, Hélène; Maakaroun-Vermesse, Zoha; Vaillant, Marie-Catherine; Le Caignec, Cédric; Chantepie, Alain; Labarthe, François (2012). Barth syndrome in a female patient. Molecular Genetics and Metabolism, 106(1):115-120.

Blokland, Ellen A

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Bodenmann, S

Bachmann, Valérie; Klein, Carina; Bodenmann, S; Schäfer, N; Berger, W; Brugger, P; Landolt, H P (2012). The BDNF Val66Met polymorphisms modulates sleep intensity: EEG frequency- and state-specificity. Sleep, 35(3):335-344.

Bachmann, V; Klaus, F; Bodenmann, S; Schäfer, N; Brugger, P; Huber, S; Berger, W; Landolt, H P (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cerebral Cortex, 22(4):962-970.

Bodenmann, S; Xu, S; Luhmann, U; Arand, M; Berger, W; Jung, H; Landolt, H P (2009). Pharmacogenetics of Modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clinical Pharmacology and Therapeutics, 85(3):296-304.

Boileau, C

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Boltshauser, E

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Bonneau, Dominique

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Boonstra, F Nienke

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Bottani, A

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Brandstätter, A

Hersberger, M; Thun, G A; Imboden, M; Brandstätter, A; Waechter, V; Summerer, M; Schmid-Grendelmeier, P; Bircher, A; Rohrer, L; Berger, W; Russi, E W; Rochat, T; Kronenberg, F; Probst-Hensch, N (2010). Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Human Immunology, 71(11):1154-1160.

Branham, Kari

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Braun, Philipp

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Bridevaux, P-O

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Brugger, P

Bachmann, Valérie; Klein, Carina; Bodenmann, S; Schäfer, N; Berger, W; Brugger, P; Landolt, H P (2012). The BDNF Val66Met polymorphisms modulates sleep intensity: EEG frequency- and state-specificity. Sleep, 35(3):335-344.

Bachmann, V; Klaus, F; Bodenmann, S; Schäfer, N; Brugger, P; Huber, S; Berger, W; Landolt, H P (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cerebral Cortex, 22(4):962-970.

Brunckhorst, Corinna

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace:Epub ahead of print.

Brunetti-Pierri, N

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Brunisholz, R

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Brunner, S

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Brunner, S. Functional analysis of the Retinitis pigmentosa GTPase regulator(RPGR) gene. 2008, University of Zurich, Faculty of Medicine.

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Brunner, Sandra

Kloeckener-Gruissem, Barbara; Dours-Zimmermann, Maria T; Skosyrski, Sergej; Brunner, Sandra; Mjaatvedt, Corey H; Zimmermann, Dieter R; Rüther, Klaus; Berger, Wolfgang (2016). A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters:20160500004.

Brutsche, M

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Imboden, M; Rochat, T; Brutsche, M; Schindler, C; Downs, S H; Gerbase, M W; Berger, W; Probst-Hensch, N M (2008). Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax, 63(4):322-8.

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Brändli, O

Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Senn, O; Russi, E W; Schindler, C; Imboden, M; von Eckardstein, A; Brändli, O; Zemp, E; Ackermann-Liebrich, U; Berger, W; Rochat, T; Luisetti, M; Probst-Hensch, N M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.

Imboden, M; Downs, S H; Senn, O; Matyas, G; Brändli, O; Russi, E W; Schindler, C; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2007). Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respiratory Research, 8:2.

Budde, B

Leroy, B P; Budde, B; Wittmer, M; De Baere, E; Berger, W; Zeitz, C (2009). A common NYX mutation in Flemish patients with X-linked CSNB. British Journal of Ophthalmology, 93(5):692-696.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Bujakowska, K

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Bujakowska, Kinga

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Bukowy-Bieryllo, Zuzanna

Bukowy-Bieryllo, Zuzanna; Zietkiewicz, Ewa; Loges, Niki Tomas; Wittmer, Mariana; Geremek, Maciej; Olbrich, Heike; Fliegauf, Manfred; Voelkel, Katarzyna; Rutkiewicz, Ewa; Rutland, Jonathan; Morgan, Lucy; Pogorzelski, Adrzej; Martin, James; Haan, Eric; Berger, Wolfgang; Omran, Heymut; Witt, Michal (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48(4):352-363.

Buzzi, F

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Bähr, Luzy

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Bühler, I

Kurz, D J; Kloeckener-Gruissem, B; Akhmedov, A; Eberli, F R; Bühler, I; Berger, W; Bertel, O; Lüscher, T F (2006). Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(6):e114-e117.

Caglayan, A O

Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330.

Camargo, Simone M R

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Cameron, D E

Schoenhoff, F S; Cameron, D E; Matyas, G; Carrel, T P (2011). Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease. Future Cardiology, 7(4):557-569.

Campo, I

Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Capatina, Nadejda

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Carrel, T

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Carrel, T P

Schoenhoff, F S; Cameron, D E; Matyas, G; Carrel, T P (2011). Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease. Future Cardiology, 7(4):557-569.

Casteels, Ingele

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Castorino, J J

Castorino, J J; Gallagher-Colombo, S M; Levin, A V; Fitzgerald, P G; Polishook, J; Kloeckener-Gruissem, B; Ostertag, E; Philp, N J (2011). Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Investigative Ophthalmology and Visual Science, 52(9):6774-6784.

Castro-Giner, F

Castro-Giner, F; et al; Kogevinas, M; Imboden, M (2009). Joint effect of obesity and TNFA variability on asthma: two international cohort studies. European Respiratory Journal, 33(5):1003-1009.

Castro-Giner, F; et al; Kogevinas, M; Imboden, M (2008). TNFA -308G>A in two international population-based cohorts and risk of asthma. European Respiratory Journal, 32(2):350-361.

Chantepie, Alain

Cosson, Laure; Toutain, Annick; Simard, Gilles; Kulik, Willem; Matyas, Gabor; Guichet, Agnès; Blasco, Hélène; Maakaroun-Vermesse, Zoha; Vaillant, Marie-Catherine; Le Caignec, Cédric; Chantepie, Alain; Labarthe, François (2012). Barth syndrome in a female patient. Molecular Genetics and Metabolism, 106(1):115-120.

Cheng, Ching-Yu

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Child, A H

Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330.

Collin, Rob W J

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Colman, D

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Comeglio, P

Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330.

Cosson, Laure

Cosson, Laure; Toutain, Annick; Simard, Gilles; Kulik, Willem; Matyas, Gabor; Guichet, Agnès; Blasco, Hélène; Maakaroun-Vermesse, Zoha; Vaillant, Marie-Catherine; Le Caignec, Cédric; Chantepie, Alain; Labarthe, François (2012). Barth syndrome in a female patient. Molecular Genetics and Metabolism, 106(1):115-120.

Cremers, F P M

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Cremers, F P M; et al; Fleischhauer, J C; Berger, W (2007). Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics, 44(2):153-60.

Cremers, Frans P M

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Curjuric, I

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Imboden, M; Schwartz, J; Schindler, C; Curjuric, I; Berger, W; Liu, S L; Russi, E W; Ackermann-Liebrich, U; Rochat, T; Probst-Hensch, N M (2009). Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect, 117(9):1420-1427.

Da Costa, R

Glaus, E; Schmid, F; Da Costa, R; Berger, W; Neidhardt, J (2011). Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Molecular Therapy, 19(5):936-941.

Da Costa, R V

Da Costa, R V. Toward treating neurodegeneration-causing splice defects in the eye. 2014, University of Zurich, Faculty of Science.

Da Costa, Romain

Da Costa, Romain; Glaus, Esther; Tiwari, Amit; Kloeckener-Gruissem, Barbara; Berger, Wolfgang; Neidhardt, John (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Therapy, 22(5):413-420.

Davies, E G

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

De Baere, E

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Leroy, B P; Budde, B; Wittmer, M; De Baere, E; Berger, W; Zeitz, C (2009). A common NYX mutation in Flemish patients with X-linked CSNB. British Journal of Ophthalmology, 93(5):692-696.

De Baere, Elfride

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

De Paepe, A

Jamsheer, A; Henggeler, C; Wierzba, J; Loeys, B; De Paepe, A; Stheneur, C H; Badziag, B; Matuszewska, K; Mátyás, G; Latos-Bielenska, A (2009). A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. Journal of Applied Genetics, 50(4):405-410.

Defoort-Dhellemmes, S

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Defoort-Dhellemmes, Sabine

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Deisl, Christine

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Dhayat, Nasser

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Di Donato, Nataliya

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Dobyns, William B

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Dold, S

Gerth-Kahlert, C; Seebauer, B; Dold, S; Hanson, J V M; Wildberger, H; Spörri, A; van Waes, H; Berger, W (2015). Intra-familial phenotype variability in patients with Jalili syndrome. Eye, 29(5):712-716.

Dollfus, Hélène

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Dona, Margo

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Dours-Zimmermann, Maria T

Kloeckener-Gruissem, Barbara; Dours-Zimmermann, Maria T; Skosyrski, Sergej; Brunner, Sandra; Mjaatvedt, Corey H; Zimmermann, Dieter R; Rüther, Klaus; Berger, Wolfgang (2016). A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters:20160500004.

Downs, S H

Imboden, M; Rochat, T; Brutsche, M; Schindler, C; Downs, S H; Gerbase, M W; Berger, W; Probst-Hensch, N M (2008). Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax, 63(4):322-8.

Imboden, M; Downs, S H; Senn, O; Matyas, G; Brändli, O; Russi, E W; Schindler, C; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2007). Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respiratory Research, 8:2.

Dratva, J

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Drumare, I

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Drumare, Isabelle

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Duijkers, Lonneke

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Dundar, M

Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330.

Duru, Firat

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace:Epub ahead of print.

Eberle, M

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, J I; Baumgartner, D (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.

Eberli, F R

Kurz, D J; Kloeckener-Gruissem, B; Akhmedov, A; Eberli, F R; Bühler, I; Berger, W; Bertel, O; Lüscher, T F (2006). Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(6):e114-e117.

Engl, G

Baumgartner, D; Baumgartner, C; Schermer, E; Engl, G; Schweigmann, U; Matyas, G; Steinmann, B; Stein, J I (2006). Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. Journal of Thoracic and Cardiovascular Surgery, 132(4):811-819.

Erkilic, K

Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330.

Farahmand, F

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Fauchere, J C

Junge, S; Kloeckener-Gruissem, B; Zufferey, R; Keisker, A; Salgo, B; Fauchere, J C; Scherer, F; Shalaby, T; Grotzer, M; Siler, U; Seger, R; Güngör, T (2007). Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. European Journal of Immunology, 37(11):3270-3280.

Feil, S

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Schäfer, N F; Luhmann, U F O; Feil, S; Berger, W (2009). Differential gene expression in Ndph knockout mice in retinal development. Investigative Ophthalmology and Visual Science, 50(2):906-916.

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Luhmann, U F O; Neidhardt, J; Kloeckener-Gruissem, B; Schäfer, N F; Glaus, E; Feil, S; Berger, W (2008). Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. European Journal of Neuroscience, 27(10):2619-2628.

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; Berger, W (2007). Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Human Mutation, 28(8):771-80.

Wycisk, K A; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Feil, Silke

Zuercher, Jurian; Fritzsche, Martin; Feil, Silke; Mohn, Lucas; Berger, Wolfgang (2012). Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Human Molecular Genetics, 21(12):2619-2630.

Felber Dietrich, D

Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.

Ferrarotti, I

Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Ferster, A

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Fierz, Fabienne

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Fitzgerald, P G

Castorino, J J; Gallagher-Colombo, S M; Levin, A V; Fitzgerald, P G; Polishook, J; Kloeckener-Gruissem, B; Ostertag, E; Philp, N J (2011). Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Investigative Ophthalmology and Visual Science, 52(9):6774-6784.

Fleischhauer, J

Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.

Kloeckener-Gruissem, B; Barthelmes, D; Labs, S; Schindler, C; Kurz-Levin, M; Michels, S; Fleischhauer, J; Berger, W; Sutter, F; Menghini, M (2011). Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Investigative Ophthalmology and Visual Science, 52(7):4694-4702.

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Fleischhauer, J C

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Cremers, F P M; et al; Fleischhauer, J C; Berger, W (2007). Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics, 44(2):153-60.

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Fleischhauer, Johannes

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Menghini, Moreno; Kloeckener-Gruissem, Barbara; Fleischhauer, Johannes; Kurz-Levin, Malaika M; Sutter, Florian K P; Berger, Wolfgang; Barthelmes, Daniel (2012). Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS ONE, 7(7):e42014.

Fliegauf, M

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Fliegauf, Manfred

Bukowy-Bieryllo, Zuzanna; Zietkiewicz, Ewa; Loges, Niki Tomas; Wittmer, Mariana; Geremek, Maciej; Olbrich, Heike; Fliegauf, Manfred; Voelkel, Katarzyna; Rutkiewicz, Ewa; Rutland, Jonathan; Morgan, Lucy; Pogorzelski, Adrzej; Martin, James; Haan, Eric; Berger, Wolfgang; Omran, Heymut; Witt, Michal (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48(4):352-363.

Flor, P J

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; Berger, W (2007). Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Human Mutation, 28(8):771-80.

Fokstuen, S

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Forster, U

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; Berger, W (2007). Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Human Mutation, 28(8):771-80.

Bahadori, R; Biehlmaier, O; Zeitz, C; Labhart, T; Makhankov, Y V; Forster, U; Gesemann, M; Berger, W; Neuhauss, S C F (2006). Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. European Journal of Neuroscience, 24(6):1664-1674.

Wycisk, K A; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.

Francastel, Claire

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Frey, Brigitte M

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Frey, M

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Friedburg, C

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Friedburg, Christoph

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Fritzsche, Martin

Zuercher, Jurian; Fritzsche, Martin; Feil, Silke; Mohn, Lucas; Berger, Wolfgang (2012). Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Human Molecular Genetics, 21(12):2619-2630.

Fry, A E

Kloeckener-Gruissem, B; Neidhardt, J; Magyar, I; Plauchu, H; Zech, J C; Morlé, L; Palmer-Smith, S M; MacDonald, M J; Nas, V; Fry, A E; Berger, W (2013). Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. European Journal of Human Genetics, 21(3):352-356.

Fröhlich, B A

Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.

Fuhrer, Yvonne

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Fundele, R

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Furthner, D

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Fuster, Daniel G

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Gallagher-Colombo, S M

Castorino, J J; Gallagher-Colombo, S M; Levin, A V; Fitzgerald, P G; Polishook, J; Kloeckener-Gruissem, B; Ostertag, E; Philp, N J (2011). Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Investigative Ophthalmology and Visual Science, 52(9):6774-6784.

Gaspar, H

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Gaspoz, Jean-Michel

Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.

Gemperli, A

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Gennery, A

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Gennery, Andrew

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Gerbase, M W

Curjuric, I; Zemp, E; Dratva, J; Ackermann-Liebrich, U; Bridevaux, P-O; Bettschart, R W; Brutsche, M; Frey, M; Gerbase, M W; Knöpfli, B; Künzli, N; Pons, M; Schwartz, J; Schindler, C; Rochat, T (2011). Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. European Respiratory Journal, 37(3):492-500.

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Imboden, M; Rochat, T; Brutsche, M; Schindler, C; Downs, S H; Gerbase, M W; Berger, W; Probst-Hensch, N M (2008). Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax, 63(4):322-8.

Geremek, Maciej

Bukowy-Bieryllo, Zuzanna; Zietkiewicz, Ewa; Loges, Niki Tomas; Wittmer, Mariana; Geremek, Maciej; Olbrich, Heike; Fliegauf, Manfred; Voelkel, Katarzyna; Rutkiewicz, Ewa; Rutland, Jonathan; Morgan, Lucy; Pogorzelski, Adrzej; Martin, James; Haan, Eric; Berger, Wolfgang; Omran, Heymut; Witt, Michal (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48(4):352-363.

Germain, Aurore

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Gerrits, B

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Gerth-Kahlert, C

Gerth-Kahlert, C; Seebauer, B; Dold, S; Hanson, J V M; Wildberger, H; Spörri, A; van Waes, H; Berger, W (2015). Intra-familial phenotype variability in patients with Jalili syndrome. Eye, 29(5):712-716.

Gerth-Kahlert, Christina

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Gesemann, M

Bahadori, R; Biehlmaier, O; Zeitz, C; Labhart, T; Makhankov, Y V; Forster, U; Gesemann, M; Berger, W; Neuhauss, S C F (2006). Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. European Journal of Neuroscience, 24(6):1664-1674.

Gilissen, Christian

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Gimelli, G

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Giunta, C

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Glass, Ian A

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Glaus, E

Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.

Schmid, F; Hiller, T; Korner, G; Glaus, E; Berger, W; Neidhardt, J (2013). A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Human Gene Therapy, 32(7):815-824.

Glaus, E; Schmid, F; Da Costa, R; Berger, W; Neidhardt, J (2011). Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Molecular Therapy, 19(5):936-941.

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Schmid, F; Glaus, E; Kloeckener-Gruissem, B; Berger, W; Neidhardt, J (2010). Mutation- and Tissue-Specific Alterations of RPGR Transcripts. Investigative Ophthalmology and Visual Science, 51(3):1628-1635.

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Neidhardt, J; et al; Glaus, E; Lorenz, B (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular Vision, 14:1081-1093.

Luhmann, U F O; Neidhardt, J; Kloeckener-Gruissem, B; Schäfer, N F; Glaus, E; Feil, S; Berger, W (2008). Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. European Journal of Neuroscience, 27(10):2619-2628.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Imboden, M; Nicod, L; Nieters, A; Glaus, E; Matyas, G; Bircher, A J; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2006). The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clinical and Experimental Allergy, 36(2):211-8.

Glaus, Esther

Da Costa, Romain; Glaus, Esther; Tiwari, Amit; Kloeckener-Gruissem, Barbara; Berger, Wolfgang; Neidhardt, John (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Therapy, 22(5):413-420.

Glöckle, Nicola

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Grillo, Giacomo

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Grimm, C

Oczos, J; Sutter, I; Kloeckener-Gruissem, B; Berger, W; Riwanto, M; Rentsch, K; Hornemann, T; von Eckardstein, A; Grimm, C (2014). Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Investigative Ophthalmology & Visual Science [IOVS], 55(8):4714-4727.

Oczos, J; Grimm, C; Barthelmes, D; Sutter, F; Menghini, M; Kloeckener-Gruissem, B; Berger, W (2013). Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age, 35(5):1651-1662.

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Gromann, J H

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Gromann, R C

Pilop, C; Aregger, F; Gromann, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gromann, J H; Mátyás, G; Carrel, T; Frey, Brigitte M (2009). Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation, 120(11):983-991.

Groothuismink, Johanne M

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Gross, A K

Zeitz, C; Gross, A K; Leifert, D; Kloeckener-Gruissem, B; McAlear, S D; Lemke, J; Neidhardt, G; Berger, W (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Investigative Ophthalmology and Visual Science, 49(9):4105-4114.

Grotzer, M

Junge, S; Kloeckener-Gruissem, B; Zufferey, R; Keisker, A; Salgo, B; Fauchere, J C; Scherer, F; Shalaby, T; Grotzer, M; Siler, U; Seger, R; Güngör, T (2007). Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. European Journal of Immunology, 37(11):3270-3280.

Guichet, Agnès

Cosson, Laure; Toutain, Annick; Simard, Gilles; Kulik, Willem; Matyas, Gabor; Guichet, Agnès; Blasco, Hélène; Maakaroun-Vermesse, Zoha; Vaillant, Marie-Catherine; Le Caignec, Cédric; Chantepie, Alain; Labarthe, François (2012). Barth syndrome in a female patient. Molecular Genetics and Metabolism, 106(1):115-120.

Guillonneau, X

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Güngör, T

Junge, S; Kloeckener-Gruissem, B; Zufferey, R; Keisker, A; Salgo, B; Fauchere, J C; Scherer, F; Shalaby, T; Grotzer, M; Siler, U; Seger, R; Güngör, T (2007). Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. European Journal of Immunology, 37(11):3270-3280.

Güngör, Tayfun

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Haan, Eric

Bukowy-Bieryllo, Zuzanna; Zietkiewicz, Ewa; Loges, Niki Tomas; Wittmer, Mariana; Geremek, Maciej; Olbrich, Heike; Fliegauf, Manfred; Voelkel, Katarzyna; Rutkiewicz, Ewa; Rutland, Jonathan; Morgan, Lucy; Pogorzelski, Adrzej; Martin, James; Haan, Eric; Berger, Wolfgang; Omran, Heymut; Witt, Michal (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48(4):352-363.

Haas, Cordula

Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine, 130(4):1023.

Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Post-mortem whole-exome sequencing(WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death(SUD) cases. International journal of legal medicine, 130(4):1011-1021.

Hackmann, Karl

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Haghighi, Alireza

Haghighi, Alireza; Tiwari, Amit; Piri, Niloofar; Nürnberg, Gudrun; Saleh-Gohari, Nasrollah; Haghighi, Amirreza; Neidhardt, John; Nürnberg, Peter; Berger, Wolfgang (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE, 9(11):e112747.

Haghighi, Amirreza

Haghighi, Alireza; Tiwari, Amit; Piri, Niloofar; Nürnberg, Gudrun; Saleh-Gohari, Nasrollah; Haghighi, Amirreza; Neidhardt, John; Nürnberg, Peter; Berger, Wolfgang (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE, 9(11):e112747.

Hamel, C P

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Hamel, Christian P

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Hansen, L L

Poloschek, C M; Kloeckener-Gruissem, B; Hansen, L L; Bach, M; Berger, W (2008). Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Investigative Ophthalmology and Visual Science, 49(9):4096-104.

Hanson, J V M

Gerth-Kahlert, C; Seebauer, B; Dold, S; Hanson, J V M; Wildberger, H; Spörri, A; van Waes, H; Berger, W (2015). Intra-familial phenotype variability in patients with Jalili syndrome. Eye, 29(5):712-716.

Hanson, James V M

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Hauri-Hohl, Mathias M

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Heckenlively, John

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Hediger, Matthias A

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Henggeler, C

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Jamsheer, A; Henggeler, C; Wierzba, J; Loeys, B; De Paepe, A; Stheneur, C H; Badziag, B; Matuszewska, K; Mátyás, G; Latos-Bielenska, A (2009). A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. Journal of Applied Genetics, 50(4):405-410.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Heon, Elise

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Hersberger, M

Hersberger, M; Thun, G A; Imboden, M; Brandstätter, A; Waechter, V; Summerer, M; Schmid-Grendelmeier, P; Bircher, A; Rohrer, L; Berger, W; Russi, E W; Rochat, T; Kronenberg, F; Probst-Hensch, N (2010). Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Human Immunology, 71(11):1154-1160.

Hetterschijt, Lisette

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Hiller, T

Schmid, F; Hiller, T; Korner, G; Glaus, E; Berger, W; Neidhardt, J (2013). A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Human Gene Therapy, 32(7):815-824.

Hoischen, Alexander

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Holst, Sebastian C

Urry, Emily; Jetter, Alexander; Holst, Sebastian C; Berger, Wolfgang; Spinas, Giatgen A; Langhans, Wolfgang; Landolt, Hans-Peter (2017). A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. Journal of Psychopharmacology, 31(2):233-242.

Holst, Sebastian C; Bersagliere, Alessia; Bachmann, Valérie; Berger, Wolfgang; Achermann, Peter; Landolt, Hans-Peter (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. Journal of Neuroscience, 2(34):566-573.

Hornemann, T

Oczos, J; Sutter, I; Kloeckener-Gruissem, B; Berger, W; Riwanto, M; Rentsch, K; Hornemann, T; von Eckardstein, A; Grimm, C (2014). Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Investigative Ophthalmology & Visual Science [IOVS], 55(8):4714-4727.

Huber, S

Bachmann, V; Klaus, F; Bodenmann, S; Schäfer, N; Brugger, P; Huber, S; Berger, W; Landolt, H P (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cerebral Cortex, 22(4):962-970.

Hurrell, R F

Biebinger, R; Arnold, M; Koss, M; Kloeckener-Gruissem, B; Langhans, W; Hurrell, R F; Zimmermann, M B (2006). Effect of concurrent vitamin A and iodine deficiencies on the thyroid-pituitary axis in rats. Thyroid, 16(10):961-965.

Héon, Elise

Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

Hüffmeier, U

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Imboden, M

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Hersberger, M; Thun, G A; Imboden, M; Brandstätter, A; Waechter, V; Summerer, M; Schmid-Grendelmeier, P; Bircher, A; Rohrer, L; Berger, W; Russi, E W; Rochat, T; Kronenberg, F; Probst-Hensch, N (2010). Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Human Immunology, 71(11):1154-1160.

Imboden, M; Schwartz, J; Schindler, C; Curjuric, I; Berger, W; Liu, S L; Russi, E W; Ackermann-Liebrich, U; Rochat, T; Probst-Hensch, N M (2009). Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect, 117(9):1420-1427.

Castro-Giner, F; et al; Kogevinas, M; Imboden, M (2009). Joint effect of obesity and TNFA variability on asthma: two international cohort studies. European Respiratory Journal, 33(5):1003-1009.

Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Senn, O; Russi, E W; Schindler, C; Imboden, M; von Eckardstein, A; Brändli, O; Zemp, E; Ackermann-Liebrich, U; Berger, W; Rochat, T; Luisetti, M; Probst-Hensch, N M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.

Imboden, M; Rochat, T; Brutsche, M; Schindler, C; Downs, S H; Gerbase, M W; Berger, W; Probst-Hensch, N M (2008). Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax, 63(4):322-8.

Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.

Castro-Giner, F; et al; Kogevinas, M; Imboden, M (2008). TNFA -308G>A in two international population-based cohorts and risk of asthma. European Respiratory Journal, 32(2):350-361.

Imboden, M; Downs, S H; Senn, O; Matyas, G; Brändli, O; Russi, E W; Schindler, C; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2007). Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respiratory Research, 8:2.

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Imboden, M; Nicod, L; Nieters, A; Glaus, E; Matyas, G; Bircher, A J; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2006). The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clinical and Experimental Allergy, 36(2):211-8.

Imboden, Medea

Thun, Gian Andri; Imboden, Medea; Berger, Wolfgang; Rochat, Thierry; Probst-Hensch, Nicole M (2013). The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study. Journal of Asthma, 50(2):147-154.

Imsand, C

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Imthurn, B

Macas, E; Matyas, G; Reuge, P; Berger, W; Imthurn, B (2009). Polar body biopsy for Curschmann–Steinert disease and successful pregnancy following embryo vitrification. Reproductive BioMedicine Online, 18(6):815-820.

Inglehearn, Chris F

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Ito, Yuya

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Iwai, Tsuyako

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Jacobson, S G

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Jacobson, Samuel G

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Jamsheer, A

Jamsheer, A; Henggeler, C; Wierzba, J; Loeys, B; De Paepe, A; Stheneur, C H; Badziag, B; Matuszewska, K; Mátyás, G; Latos-Bielenska, A (2009). A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. Journal of Applied Genetics, 50(4):405-410.

Jetter, Alexander

Urry, Emily; Jetter, Alexander; Holst, Sebastian C; Berger, Wolfgang; Spinas, Giatgen A; Langhans, Wolfgang; Landolt, Hans-Peter (2017). A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. Journal of Psychopharmacology, 31(2):233-242.

Joncourt, F

Niedrist, D; Joncourt, F; Matyas, G; Müller, A (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical Genetics, 75(3):286-289.

Jung, H

Bodenmann, S; Xu, S; Luhmann, U; Arand, M; Berger, W; Jung, H; Landolt, H P (2009). Pharmacogenetics of Modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clinical Pharmacology and Therapeutics, 85(3):296-304.

Jung, H H

Rétey, J V; Adam, M; Khatami, R; Luhmann, U F O; Jung, H H; Berger, W; Landolt, H P (2007). A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clinical Pharmacology and Therapeutics, 81(5):692-698.

Junge, S

Junge, S; Kloeckener-Gruissem, B; Zufferey, R; Keisker, A; Salgo, B; Fauchere, J C; Scherer, F; Shalaby, T; Grotzer, M; Siler, U; Seger, R; Güngör, T (2007). Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. European Journal of Immunology, 37(11):3270-3280.

Kahlert, Anne-Karin

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Kebaili, Kamila

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Keidel, D

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Keisker, A

Junge, S; Kloeckener-Gruissem, B; Zufferey, R; Keisker, A; Salgo, B; Fauchere, J C; Scherer, F; Shalaby, T; Grotzer, M; Siler, U; Seger, R; Güngör, T (2007). Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. European Journal of Immunology, 37(11):3270-3280.

Kellner, U

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Kellner, Ulrich

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

Khan, Naheed

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Khatami, R

Rétey, J V; Adam, M; Khatami, R; Luhmann, U F O; Jung, H H; Berger, W; Landolt, H P (2007). A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clinical Pharmacology and Therapeutics, 81(5):692-698.

Kirschner-Schwabe, R

Brunner, S;