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Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of Personalized Medicine, 14(6):648.

Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.

Jeltsch, Brida M; Sarraf, David; Madjdpour, Darius; Hanson, James V M; Pfiffner, Fatma K; Koller, Samuel; Berger, Wolfgang; Barthelmes, Daniel; Al-Sheikh, Mayss (2024). Rapid onset hydroxychloroquine toxicity. Retinal Cases & Brief Reports, Publish :Epub ahead of print.

Delas, Flora; Koller, Samuel; Feil, Silke; Dacheva, Ivanka; Gerth-Kahlert, Christina; Berger, Wolfgang (2023). Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract. International Journal of Molecular Sciences, 24(23):16594.

Pauzuolyte, Valda; Patel, Aara; Wawrzynski, James R; Ingham, Neil J; Leong, Yeh Chwan; Karda, Rajvinder; Bitner‐Glindzicz, Maria; Berger, Wolfgang; Waddington, Simon N; Steel, Karen P; Sowden, Jane C (2023). Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. EMBO Molecular Medicine, 15(10):e17393.

Koller, Samuel; Beltraminelli, Tim; Maggi, Jordi; Wlodarczyk, Agnès; Feil, Silke; Baehr, Luzy; Gerth-Kahlert, Christina; Menghini, Moreno; Berger, Wolfgang (2023). Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes, 14(4):934.

Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al (2023). Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. Human Genetics and Genomics Advances, 4(2):100181.

Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B (2023). The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatric Neurology, 141:79-86.

de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; et al (2023). Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. Genetics in Medicine, 25(3):100345.

Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland. medRxiv 22283790, Cold Spring Harbor Laboratory.

Kivrak Pfiffner, Fatma; Koller, Samuel; Ménétrey, Anika; Graf, Urs; Bähr, Luzy; Maspoli, Alessandro; Hackenberg, Annette; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2022). Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment. International Journal of Molecular Sciences, 23(13):7382.

Neubauer, Jacqueline; Kissel, Christine K; Bolliger, Stephan A; Barbon, Daniela; Thali, Michael J; Kloiber, Daniel; Bode, Peter Karl; Kovacs, Boldizsar; Graf, Urs; Maspoli, Alessandro; Berger, Wolfgang; Saguner, Ardan M; Haas, Cordula (2022). Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland. Forensic Science International, 334:111240.

Peters, Florian; Ebner, Lynn J A; Atac, David; Maggi, Jordi; Berger, Wolfgang; den Hollander, Anneke I; Grimm, Christian (2022). Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE. International Journal of Molecular Sciences, 23(6):3194.

Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; Moulding, Dale A; Leong, Yeh C; Jafree, Daniyal J; Long, David A; Al-Yassin, Amina; Steel, Karen P; Jagger, Daniel J; Forge, Andrew; Berger, Wolfgang; Sowden, Jane C; Bitner-Glindzicz, Maria (2022). The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. Journal of clinical investigation insight, 7(3):e148586.

Atac, David; Mohn, Lucas; Feil, Silke; Maggi, Kevin; Haenni, Dominik; Seebauer, Britta; Koller, Samuel; Berger, Wolfgang (2022). Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. International Journal of Molecular Sciences, 23(3):1053.

Costa, Sarah; Medeiros-Domingo, Argelia; Gasperetti, Alessio; Akdis, Deniz; Berger, Wolfgang; James, Cynthia A; Ruschitzka, Frank; Brunckhorst, Corinna; Duru, Firat; Saguner, Ardan M (2021). Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria. Circulation: Genomic and Precision Medicine, 14(1):e003047.

Rechsteiner, Delia; Issler, Lydia S; Koller, Samuel; Lang, Elena; Bahr, Luzy; Feil, Silke; Rüegger, Christoph; Kottke, Raimund; Toelle, Sandra P; Zweifel, Noëmi; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Suter, Aude-Annick; Gogoll, Laura; Haas, Cordula; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology, 139(7):691.

Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver Andreas; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4):e594-e607.

Maggi, Jordi; Koller, Samuel; Bähr, Luzy; Feil, Silke; Kivrak-Pfiffner, Fatma; Hanson, James V M; Maspoli, Alessandro; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. International Journal of Molecular Sciences, 22(4):1508.

Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes, 12(1):E65.

Gubrich, David. ATOH7 as molecular basis for optic nerve hypoplasia and other retinal diseases. 2021, University of Zurich, Faculty of Science.

Maggi, Jordi. The Genetic Basis of Eye Diseases: Identification and Functional Characterization of Genes and Mutations. 2021, University of Zurich, Faculty of Science.

Kandaswamy, Dinesh Kumar; Prakash, Makarla Venkata Sathya; Graw, Jochen; Koller, Samuel; Magyar, István; Tiwari, Amit; Berger, Wolfgang; Santhiya, Sathiyaveedu Thyagarajan (2020). Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India. International Journal of Molecular Sciences, 21(24):9569.

Maggi, Jordi; Roberts, Lisa; Koller, Samuel; Rebello, George; Berger, Wolfgang; Ramesar, Rajkumar (2020). De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline. Genes, 11(7):800.

Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina (2020). Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. Translational vision science & technology, 9(7):47.

Ulv Larsen, Sara Marie; Landolt, Hans-Peter; Berger, Wolfgang; Nedergaard, Maiken; Knudsen, Gitte Moos; Holst, Sebastian Camillo (2020). Haplotype of the astrocytic water channel AQP4 is associated with slow wave energy regulation in human NREM sleep. PLoS Biology, 18(5):e3000623.

Klee, Katrin; Storti, Federica; Maggi, Jordi; Todorova, Vyara; Karademir, Duygu; Berger, Wolfgang; Samardzija, Marijana; Grimm, Christian (2020). The expression of Decidual Protein induced by Progesterone (DEPP) is controlled by three distal consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial cells. Genes, 11(1):E111.

Atac, David; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2020). Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human Molecular Genetics, 29(1):132-148.

Lang, Elena. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. 2020, University of Zurich, Faculty of Medicine.

Park, Hongryeol; Yamamoto, Hiroyuki; Mohn, Lucas; Ambühl, Lea; Kanai, Kenichi; Schmidt, Inga; Kim, Kee-Pyo; Fraccaroli, Alessia; Feil, Silke; Junge, Harald J; Montanez, Eloi; Berger, Wolfgang; Adams, Ralf H (2019). Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. Nature Communications, 10(1):5243.

Gerth-Kahlert, Christina; Koller, Samuel; Hanson, James V M; Baehr, Luzy; Tiwari, Amit; Kivrak-Pfiffner, Fatma; Bahr, Angela; Berger, Wolfgang (2019). Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science [IOVS], 60(8):2822-2835.

Ingold, Sabrina. Association of a body fluid with a DNA profile by targeted RNA/ DNA deep sequencing. 2019, University of Zurich, Faculty of Science.

Boiadjieva Knöpfel, Emilia; Vilches, Clara; Camargo, Simone M R; Errasti-Murugarren, Ekaitz; Stäubli, Andrina; Mayayo, Clara; Munier, Francis L; Miroshnikova, Nataliya; Poncet, Nadège; Junza, Alexandra; Bhattacharya, Shomi S; Prat, Esther; Berry, Vanita; Berger, Wolfgang; Heon, Elise; Moore, Anthony T; Yanes, Óscar; Nunes, Virginia; Palacín, Manuel; Verrey, Francois; Kloeckener-Gruissem, Barbara (2019). Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Frontiers in Physiology, 10:688.

Beck, Susanne C; Karlstetter, Marcus; Garcia Garrido, Marina; Feng, Yuxi; Dannhausen, Katharina; Mühlfriedel, Regine; Sothilingam, Vithiyanjali; Seebauer, Britta; Berger, Wolfgang; Hammes, Hans-Peter; Seeliger, Mathias W; Langmann, Thomas (2018). Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina. Scientific Reports, 8(1):5970.

Gerth-Kahlert, Christina; Koller, Samuel (2018). Retinale Ziliopathien. Klinische Monatsblätter für Augenheilkunde, 235(3):264-272.

Valomon, Amandine; Holst, Sebastian C; Borrello, Alessandro; Weigend, Susanne; Müller, Thomas; Berger, Wolfgang; Sommerauer, Michael; Baumann, Christian R; Landolt, Hans-Peter (2018). Effects of COMT genotype and tolcapone on lapses of sustained attention after sleep deprivation in healthy young men. Neuropsychopharmacology, 43(7):1599-1607.

Gerth-Kahlert, Christina; Maggi, Jordi; Töteberg-Harms, Marc; Tiwari, Amit; Budde, Birgit; Nürnberg, Peter; Koller, Samuel; Berger, Wolfgang (2018). Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria. Ophthalmology Glaucoma, 1(2):145-147.

Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula (2018). Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes. International journal of legal medicine, 132(4):1057-1065.

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.

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2017). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace, 19(6):1063-1069.

Holst, Sebastian C; Müller, Thomas; Valomon, Amandine; Seebauer, Britta; Berger, Wolfgang; Landolt, Hans-Peter (2017). Functional polymorphisms in dopaminergic genes modulate neurobehavioral and neurophysiological consequences of sleep deprivation. Scientific Reports, 7:45982.

Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula (2017). Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. European Journal of Human Genetics, 25(4):404-409.

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.

Beck, Susanne C; Feng, Yuxi; Sothilingam, Vithiyanjali; Garcia Garrido, Marina; Tanimoto, Naoyuki; Acar, Niyazi; Shan, Shenliang; Seebauer, Britta; Berger, Wolfgang; Hammes, Hans-Peter; Seeliger, Mathias W (2017). Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. PLoS ONE, 12(6):e0178753.

Neubauer, Jacqueline. Molecular autopsy in Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death (SUD) in the young. 2017, University of Zurich, Faculty of Medicine.

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.

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.

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin P; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel V; 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; 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.

Seebauer, Britta. Functional characterization of sequence variants in SRF, MKL1 and MKL2, presumably associated with exudative vitreoretinopathy (EVR). 2015, University of Zurich, Faculty of Science.

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.

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.

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.

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.

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.

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.

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.

Oczos, Jadwiga. The role of paraoxonase-1 in retinal physiology and age-related macular degeneration. 2014, University of Zurich, Faculty of Science.

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

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.

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.

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.

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.

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.

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; Philp, 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.

Mohn, L. The understanding of Norrin's role in angiogenesis. 2013, University of Zurich, Faculty of Science.

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.

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.

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.

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.

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.

Zürcher, Jurian. Molecular Mechanisms of Sprouting Angiogenesis in the Retina: Crosstalk between Notch and Norrin-Wnt signaling. 2012, University of Zurich, Faculty of Science.

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.

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.

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.

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.

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, Fabian. Identification and treatment of splice defects in ciliary genes RPGR and BBS1 causing Retinitis pigmentosa. 2011, University of Zurich, Faculty of Science.

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.

Magyar, I. Molecular basis of Marfan syndrome: In vitro and in silico analyses of exonic and intronic sequence variants in the FBN1 gene. 2011, University of Zurich, Faculty of Medicine.

Neidhardt, J. Retinal degeneration: Molecular bases, relevance of splicing and therapeutic approaches. 2011, University of Zurich, Faculty of Medicine.

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 T; 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.

Tanner, Gaby-Gerda. Alternative splicing of genes associated with retinitis pigmentosa - pathogenic mechanisms and therapeutic approaches. 2010, University of Zurich, Faculty of Science.

Klaus, Federica Rosina Patmina. Functional genetic variation of adenosine deaminase and the effects of sleep deprivation in healthy adults. 2010, University of Zurich, Faculty of Medicine.

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.

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.

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 F; Lorenz, B; Preising, M; Kellner, U; Renner, A B; 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.

Schäfer, N F. Norrin Signaling in Norrie Disease and Allelic Disorders. 2009, University of Zurich, Faculty of Medicine.

Pilop, C; Aregger, F; Gorman, R C; Brunisholz, R; Gerrits, B; Schaffner, T; Gorman III, 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.

Imboden, M; Schwartz, J; Schindler, C; Curjuric, I; Berger, W; Liu, S L J; 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.

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

Bodenmann, S; Xu, S; Luhmann, U; Arand, Michael; 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.

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

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.

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.

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.

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 (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Reimann, C; Kloeckener-Gruissem, B; Niemeyer, C M; Vanscheidt, W (2008). Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. Journal of the European Academy of Dermatology and Venereology, 22(7):897-898.

Senn, Oliver; Russi, Erich W; Schindler, Christian; Imboden, Medea; von Eckardstein, Arnold; Brändli, Otto; Zemp, Elisabeth; Ackermann-Liebrich, Ursula; Berger, Wolfgang; Rochat, Thierry; Luisetti, Maurizio; Probst-Hensch, Nicole M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.

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

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.

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.

Matyas, G. Molecular bases of Marfan syndrome and related disorders. 2008, University of Zurich, Faculty of Medicine.

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.

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.

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.

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.

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.

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, Tayfun (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.

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.

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.

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, A J; 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.

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.

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.

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.

Zeitz, Christina; van Genderen, Maria; Neidhardt, John; Luhmann, Ulrich F O; Hoeben, Frank; Forster, Ursula; Wycisk, Katharina Agnes; Matyas, Gabor; Hoyng, Carel B; Riemslag, Frans; Meire, Francoise; Cremers, Frans P M; Berger, Wolfgang (2005). Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram. Investigative Ophthalmology & Visual Science, 46(11):4328-4335.

Luhmann, Ulrich F O; Lin, Jihong; Acar, Niyazi; Lammel, Stefanie; Feil, Silke; Grimm, Christian; Seeliger, Mathias W; Hammes, Hans-Peter; Berger, Wolfgang (2005). Role of the Norrie Disease Pseudoglioma Gene in Sprouting Angiogenesis during Development of the Retinal Vasculature. Investigative Ophthalmology & Visual Science, 46(9):3372-3382.

Luhmann, Ulrich F O; Meunier, Dominique; Shi, Wei; Lüttges, Angela; Pfarrer, Christiane; Fundele, Reinald; Berger, Wolfgang (2005). Fetal loss in homozygous mutant Norrie disease mice: A new role of Norrin in reproduction. Genesis, 42(4):253-262.

Zeitz, Christina; Scherthan, Harry; Freier, Susanne; Feil, Silke; Suckow, Vanessa; Schweiger, Susann; Berger, Wolfgang (2003). NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Investigative Ophthalmology & Visual Science [IOVS], 44(10):4184-4191.

This list was generated on Tue Jul 23 00:01:50 2024 CEST.