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Number of items at this level: 173.

2017

Guo, Dong-chuan; Duan, Xue-Yan; Regalado, Ellen S; Mellor-Crummey, Lauren; Kwartler, Callie S; Kim, Dong; Lieberman, Kenneth; de Vries, Bert B.A; Pfundt, Rolph; Schinzel, Albert; Kotzot, Dieter; Shen, Xuetong; Yang, Min-Lee; Bamshad, Michael J; Nickerson, Deborah A; Gornik, Heather L; Ganesh, Santhi K; Braverman, Alan C; Grange, Dorothy K; Milewicz, Dianna M (2017). Loss-of-function mutations in YY1AP1 lead to grange syndrome and a fibromuscular dysplasia-like vascular disease. American Journal of Human Genetics, 100(1):21-30.

2016

Hackenberg, Annette; Boltshauser, Eugen; Gerth-Kahlert, Christina; Stahr, Nikolai; Azzarello-Burri, Silvia; Plecko, Barbara (2016). Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations. Neuropediatrics, 48(01):057-058.

Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; Nissen, Anke; Brigatti, Karlla W; Puffenberger, Erik G; Millen, Kathleen J; Strauss, Kevin A; Dobyns, William B; Troy, Carol M; Jinks, Robert N (2016). Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99(5):1117-1129.

Reis, L M; Tyler, R C; Weh, E; Hendee, K E; Schilter, K F; Phillips, J A; Sequeira, S; Schinzel, A; Semina, E V (2016). Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clinical Genetics, 90(4):378-382.

Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; et al (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of Medical Genetics, 53(8):511-522.

Brodbeck, Michael; Yousif, Q; Diener, P A; Zweier, M; Gruenert, J (2016). The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Research Notes, 9:294.

Oneda, Beatrice; Steindl, Katharina; Masood, Rahim; Reshetnikova, Irina; Krejci, Pavel; Baldinger, Rosa; Reissmann, Regina; Taralczak, Malgorzata; Guetg, Adriano; Wisser, Josef; Fauchère, Jean-Claude; Rauch, Anita (2016). Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 200:72-75.

Asadollahi, Reza (2016). Inspirations in medical genetics. Journal of medical biography, 24(1):138-140.

D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M; Faucett, W Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J R A; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina; Forzano, Francesca; Gérard, Marion; Goin-Kochel, Robin P; Grant, Ellen; Hunter, Jill V; Isidor, Bertrand; Jacquette, Aurélia; Jønch, Aia E; Keren, Boris; Lacombe, Didier; et al (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73(1):20-30.

Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch-Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R; Rauch, Anita (2016). A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2):392-402.

Chong, Jessica X; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M; Jamal, Seema M; Tabor, Holly K; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E; Nickerson, Deborah A; Bamshad, Michael J (2016). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine, 18(8):788-795.

Niedrist, Dunja (2016). Hochdurchsatz-Sequenzierung. Swiss Medical Forum, 16(5152):1103-1104.

Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A; Struys, Eduard; Papuc, Sorina M; Rauch, Anita; Hersberger, Martin; Verhoeven-Duif, Nanda M; Plecko, Barbara (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.

2015

Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; et al (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of Medical Genetics, 52(12):804-814.

Dona, Margo; Bachmann-Gagescu, Ruxandra; Texier, Yves; Toedt, Grischa; Hetterschijt, Lisette; Tonnaer, Edith L; Peters, Theo A; van Beersum, Sylvia E C; Bergboer, Judith G M; Horn, Nicola; de Vrieze, Erik; Slijkerman, Ralph W N; van Reeuwijk, Jeroen; Flik, Gert; Keunen, Jan E; Ueffing, Marius; Gibson, Toby J; Roepman, Ronald; Boldt, Karsten; Kremer, Hannie; van Wijk, Erwin (2015). NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish. PLoS Genetics, 11(10):e1005574.

Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin (2015). The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking. PLoS Genetics, 11(10):e1005575.

May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al (2015). ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Human Molecular Genetics, 24(17):4848-4861.

Bachmann-Gagescu, Ruxandra; Phelps, Ian G; Dempsey, Jennifer C; Sharma, Vivek A; Ishak, Gisele E; Boyle, Evan A; Wilson, Meredith; Marques Lourenço, Charles; Arslan, Mutluay; Shendure, Jay; Doherty, Dan (2015). KIAA0586 is mutated in Joubert syndrome. Human Mutation, 36(9):831-835.

Yigit, Gökhan; Brown, Karen E; Kayserili, Hülya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bögershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nürnberg, Gudrun; Nürnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd (2015). Mutations in CDK5RAP2 cause Seckel syndrome. Molecular Genetics & Genomic Medicine, 3(5):467-480.

Bachmann-Gagescu, R; Dempsey, J C; Phelps, I G; O'Roak, B J; Knutzen, D M; Rue, T C; Ishak, G E; Isabella, C R; Gorden, N; Adkins, J; Boyle, E A; de Lacy, N; O'Day, D; Alswaid, A; Ramadevi A, R; Lingappa, L; Lourenço, C; Martorell, L; Garcia-Cazorla, À; Ozyürek, H; Haliloğlu, G; Tuysuz, B; Topçu, M; Chance, P; Parisi, M A; Glass, I A; Shendure, J; Doherty, D (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics, 52(8):514-522.

Martinelli, Simone; Stellacci, Emilia; Pannone, Luca; D'Agostino, Daniela; Consoli, Federica; Lissewski, Christina; Silvano, Marianna; Cencelli, Giulia; Lepri, Francesca; Maitz, Silvia; Pauli, Silke; Rauch, Anita; Zampino, Giuseppe; Selicorni, Angelo; Melançon, Serge; Digilio, Maria C; Gelb, Bruce D; De Luca, Alessandro; Dallapiccola, Bruno; Zenker, Martin; Tartaglia, Marco (2015). Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Human Mutation, 36(8):787-796.

Rosin, Nadine; Elcioglu, Nursel H; Beleggia, Filippo; Isgüven, Pinar; Altmüller, Janine; Thiele, Holger; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Nürnberg, Peter; Wollnik, Bernd; Yigit, Gökhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics, 24(13):3708-3717.

Gschwind, Markus; Foletti, Giovanni; Baumer, Alessandra; Bottani, Armand; Novy, Jan (2015). Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome. Molecular Syndromology, 6(2):91-95.

Maass, Philipp G; Aydin, Atakan; Luft, Friedrich C; et al (2015). PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics, 47(6):647-653.

Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C; Harewood, Louise; Kosmicki, Jack A; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M; Alfaiz, Ali Abdullah; van Haelst, Mieke M; Andrieux, Joris; Gusella, James F; Daly, Mark J; Beckmann, Jacques S; Jacquemont, Sébastien; Talkowski, Michael E; Katsanis, Nicholas; Reymond, Alexandre (2015). A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology. American Journal of Human Genetics, 96(5):784-796.

Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; et al (2015). Variants in CUL4B are associated with cerebral malformations. Human Mutation, 36(1):106-117.

Steiner, Bernhard; Masood, Rahim; Rufibach, Kaspar; Niedrist, Dunja; Kundert, Oliver; Riegel, Mariluce; Schinzel, Albert (2015). An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies. European Journal of Human Genetics, 23(4):466-472.

Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics, 23(5):602-609.

Imthurn, Bruno; Berger, Wolfgang; Macas, Ervin; Magyar, István; Oneda, Beatrice; Rauch, Anita; Xie, Min (2015). Polar body diagnosis (PBD): an alternative and supplement to preimplantation diagnosis for single embryo transfer. In: Sills, E Scott. Screening the Single Euploid Embryo : Molecular Genetics in Reproductive Medicine. International Publishing Switzerland: Springer, 103-122.

2014

Bachmann-Gagescu, Ruxandra (2014). Complexité génétique des ciliopathies et identification de nouveaux gènes. Médecine/Sciences, 30(11):1011-1023.

Bülow, Luzie; Lissewski, Christina; Bressel, Rainer; Rauch, Anita; Stark, Zornitza; Zenker, Martin; Bartsch, Oliver (2014). Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. American Journal of Medical Genetics. Part A, 167(2):394-399.

Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux, Joris; Dieux, Anne; FitzPatrick, David; Ritter, Susanne; Baumer, Alessandra; Latal, Beatrice; Plecko, Barbara; Jenni, Oskar G; Rauch, Anita (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10):677-688.

Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias (2014). Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. European Journal of Pediatrics, 173(9):1253-1256.

Sousa, Sérgio B; Hennekam, Raoul C (2014). Phenotype and genotype in Nicolaides-Baraitser syndrome. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 166(3):302-314.

Hackenberg, Annette; Baumer, Alessandra; Sticht, Heinrich; Schmitt, Bernhard; Kroell-Seger, Judith; Wille, David; Joset, Pascal; Papuc, Sorina; Rauch, Anita; Plecko, Barbara (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4):261-264.

Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein-Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; Hebisch, Gundula; Hüsler, Margaret; Mueller, René; Prentl, Elke; Wisser, Josef; Zimmermann, Roland; Rauch, Anita (2014). High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenatal Diagnosis, 34(6):525-533.

Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica (2014). Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia, 55(6):849-857.

Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5):649-661.

Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne (2014). A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. American Journal of Medical Genetics. Part A, 164A(5):1277-1283.

Hart, Lesley; Rauch, Anita; Carr, Antony M; Vermeesch, Joris R; O'Driscoll, Mark (2014). LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Disease Models & Mechanisms, 7(5):535-545.

Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 94(1):62-72.

Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3):327-332.

Riegel, Mariluce; Moreira, Lilia M; Espirito Santo, Layla D; Toralles, Maria B P; Schinzel, Albert (2014). Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype. Molecular Cytogenetics, 7:77.

2013

Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25):5121-5135.

Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2013). A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Journal of Medical Genetics, 50(12):838-847.

Vulto-van Silfhout, Anneke T; van Ravenswaaij, Conny M A; Hehir-Kwa, Jayne Y; Verwiel, Eugène T P; Dirks, Rita; van Vooren, Steven; Schinzel, Albert; de Vries, Bert B A; de Leeuw, Nicole (2013). An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. European Journal of Medical Genetics, 56(9):471-474.

Mamasoula, Chrysovalanto; Prentice, R Reid; Pierscionek, Tomasz; Pangilinan, Faith; Mills, James L; Druschel, Charlotte; Pass, Kenneth; Russell, Mark W; Hall, Darroch; Töpf, Ana; Brown, Danielle L; Zelenika, Diana; Bentham, Jamie; Cosgrove, Catherine; Bhattacharya, Shoumo; Riveron, Javier Granados; Setchfield, Kerry; Brook, J David; Bu'Lock, Frances A; Thornborough, Chris; Rahman, Thahira J; Doza, Julian Palomino; Tan, Huay L; O'Sullivan, John; Stuart, A Graham; Blue, Gillian; Winlaw, David; Postma, Alex V; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Moorman, Antoon F M; Rauch, Anita; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Lathrop, G Mark; Farrall, Martin; Goodship, Judith A; Cordell, Heather J; Brody, Lawrence C; Keavney, Bernard D (2013). Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circulation. Cardiovascular Genetics, 6(4):347-353.

Asadollahi, Reza; Asadollahi, Hamid (2013). Avicenna's view on medical genetics. Genetics in Medicine, 15(5):410-411.

Dobrinas, Maria; Crettol, Séverine; Oneda, Beatrice; Lahyani, Rachel; Rotger, Margalida; Choong, Eva; Lubomirov, Rubin; Csajka, Chantal; Eap, Chin B (2013). Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study. Pharmacogenetics and Genomics, 23(2):84-93.

Gregor, Anne; Oti, Martin; Kouwenhoven, Evelyn N; Hoyer, Juliane; Sticht, Heinrich; Ekici, Arif B; Kjaergaard, Susanne; Rauch, Anita; Stunnenberg, Hendrik G; Uebe, Steffen; Vasileiou, Georgia; Reis, André; Zhou, Huiqing; Zweier, Christiane (2013). De novo mutations in the genome organizer CTCF cause intellectual disability. American Journal of Human Genetics, 93(1):124-131.

Asadollahi, Reza; Oneda, Beatrice; Sheth, Frenny; Azzarello-Burri, Silvia; Baldinger, Rosa; Joset, Pascal; Latal, Beatrice; Knirsch, Walter; Desai, Soaham; Baumer, Alessandra; Houge, Gunnar; Andrieux, Joris; Rauch, Anita (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21(10):1100-1104.

Huber, Céline; Faqeih, Eissa Ali; Bartholdi, Deborah; Bole-Feysot, Christine; Borochowitz, Zvi; Cavalcanti, Denise P; Frigo, Amandine; Nitschke, Patrick; Roume, Joelle; Santos, Heloísa G; Shalev, Stavit A; Superti-Furga, Andrea; Delezoide, Anne-Lise; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie (2013). Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. American Journal of Human Genetics, 92(1):144-149.

Bartholdi, Deborah; Asadollahi, Reza; Oneda, Beatrice; Schmitt-Mechelke, Thomas; Tonella, Paolo; Baumer, Alessandra; Rauch, Anita (2013). Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. American Journal of Medical Genetics. Part A, 161(8):1853-1859.

Cordell, Heather J; Töpf, Ana; Mamasoula, Chrysovalanto; Postma, Alex V; Bentham, Jamie; Zelenika, Diana; Heath, Simon; Blue, Gillian; Cosgrove, Catherine; Granados Riveron, Javier; Darlay, Rebecca; Soemedi, Rachel; Wilson, Ian J; Ayers, Kristin L; Rahman, Thahira J; Hall, Darroch; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Brook, J David; Setchfield, Kerry; Bu'Lock, Frances A; Thornborough, Chris; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Bhattacharya, Shoumo; Winlaw, David; Mital, Seema; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Moorman, Antoon F M; Rauch, Anita; Lathrop, G Mark; Keavney, Bernard D; Goodship, Judith A (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7):1473-1481.

Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Superti-Furga, Andrea; Moreira, Lilia M A; Santo, Layla D E; Schiper, Patricia P; Carvalho, José Henrique Dantas; Giedion, Andres (2013). Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. American Journal of Medical Genetics. Part A, 161(9):2216-2225.

Goubau, Christophe; Devriendt, Koen; Van der Aa, Nathalie; Crepel, An; Wieczorek, Dagmar; Kleefstra, Tjitske; Willemsen, Marjolein H; Rauch, Anita; Tzschach, Andreas; de Ravel, Thomy; Leemans, Peter; Van Geet, Chris; Buyse, Gunnar; Freson, Kathleen (2013). Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. European Journal of Human Genetics, 21(12):1349-1355.

Zahnleiter, Diana; Uebe, Steffen; Ekici, Arif B; Hoyer, Juliane; Wiesener, Antje; Wieczorek, Dagmar; Kunstmann, Erdmute; Reis, André; Doerr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian T (2013). Rare copy number variants are a common cause of short stature. PLoS Genetics, 9(3):e1003365.

Steinbusch, C V M; van Roozendaal, K E P; Tserpelis, D; Smeets, E E J; Kranenburg-de Koning, T J; de Waal, K H; Zweier, C; Rauch, A; Hennekam, R C M; Blok, M J; Schrander-Stumpel, C T R M (2013). Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clinical Genetics, 83(1):73-77.

Hadj-Rabia, Smail; Callewaert, Bert L; Bourrat, Emmanuelle; Kempers, Marlies; Plomp, Astrid S; Layet, Valerie; Bartholdi, Deborah; Renard, Marjolijn; De Backer, Julie; Malfait, Fransiska; Vanakker, Olivier M; Coucke, Paul J; De Paepe, Anne M; Bodemer, Christine (2013). Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet Journal of Rare Diseases, 8:36.

2012

Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19):4314-4324.

Frühmesser, Anne; Haberlandt, Edda; Judmaier, Werner; Schinzel, Albert; Utermann, Barbara; Erdel, Martin; Fauth, Christine; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter (2012). Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. American Journal of Medical Genetics. Part A, 158A(9):2239-2244.

Hoyer, Juliane; Ekici, Arif B; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics, 90(3):565-572.

Wolff, D; Endele, S; Azzarello-Burri, S; Hoyer, J; Zweier, M; Schanze, I; Schmitt, B; Rauch, A; Reis, A; Zweier, C (2012). In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Molecular Syndromology, 2(6):237-244.

Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: significance and pathogenic considerations. Cerebellum, 11(4):1026-1036.

Robberecht, Caroline; Voet, Thierry; Utine, Gülen E; Schinzel, Albert; de Leeuw, Nicole; Fryns, Jean-Pierre; Vermeesch, Joris (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5:19.

Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M; Male, Alison M; Marques, Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A; Rozenberg, Flore; Schmidt, Johanna L; Steindl, Katharina; Tan, Tiong Y; van der Merwe, William G; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J; Keegan, Liam P; O'Connell, Mary A; Lovell, Simon C; Crow, Yanick J (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11):1243-1248.

Jaureguiberry, Graciana; et al (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1-2):1-6.

Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attié-Bitach, Tania (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11):713-720.

Soemedi, Rachel; Topf, Ana; Wilson, Ian J; Darlay, Rebecca; Rahman, Thahira; Glen, Elise; Hall, Darroch; Huang, Ni; Bentham, Jamie; Bhattacharya, Shoumo; Cosgrove, Catherine; Brook, J David; Granados-Riveron, Javier; Setchfield, Kerry; Bu'lock, Frances; Thornborough, Chris; Devriendt, Koenraad; Breckpot, Jeroen; Hofbeck, Michael; Lathrop, Mark; Rauch, Anita; Blue, Gillian M; Winlaw, David S; Hurles, Matthew; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard D (2012). Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics, 21(7):1513-1520.

Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B; Zink, Alexander M; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet, 380(9854):1674-1682.

Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey; Arrondel, Christelle; Sallinen, Satu-Leena; Saloranta, Carola; Clericuzio, Carol; Viot, Géraldine; Tantau, Julia; Blesson, Sophie; Cloarec, Sylvie; Machet, Marie Christine; Chitayat, David; Thauvin, Christelle; Laurent, Nicole; Sampson, Julian R; Bernstein, Jonathan A; Clemenson, Alix; Prieur, Fabienne; Daniel, Laurent; Levy-Mozziconacci, Annie; Lachlan, Katherine; Alessandri, Jean Luc; Cartault, François; Rivière, Jean Pierre; Picard, Nicole; Baumann, Clarisse; Delezoide, Anne Lise; Belar Ortega, Maria; Chassaing, Nicolas; Labrune, Philippe; Yu, Sui; Firth, Helen; Wellesley, Diana; Bitzan, Martin; Alfares, Ahmed; Braverman, Nancy; Krogh, Lotte; Tolmie, John; Gaspar, Harald; Doray, Bérénice; Majore, Silvia; Bonneau, Dominique; Triau, Stéphane; Loirat, Chantal; David, Albert; Bartholdi, Deborah; Peleg, Amir; Brackman, Damien; Stone, Rosario; Deberardinis, Ralph; Corvol, Pierre; Michaud, Annie; Antignac, Corinne; Gubler, Marie Claire (2012). Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation, 33(2):316-326.

Zweier, M; Rauch, A (2012). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3-5):164-170.

2011

Kosztolányi, G; Brecevic, L; Bajnòczky, K; Schinzel, A; Riegel, M (2011). Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. European Journal of Medical Genetics, 54(2):152-156.

Hofmann, K; Becker, Jutta; Heller, R; Boute, O; Andrieux, J; Hoyer, J; Ekici, A B; Reis, A; Rauch, A (2011). 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). European Journal of Medical Genetics, 54(5):e495-e500.

Schinzel, Albert (2011). Achados clínicos em pacientesw com aberrações cromossômicas autossômicas. In: Weidner Maluf, Sharbel; Riegel, Mariluce. Citogenética Humana. Porto Alegre: Artmed, 317-325.

Kalay, E; et al; Rauch, A (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics, 43(1):23-26.

Steiner, B; Rosendahl, J; Witt, H; Teich, N; Keim, V; Schulz, H U; Pfützer, R; Lühr, M; Gress, T M; Nickel, R; Landt, O; Koudova, M; Macek, M; Farre, A; Casals, T; Desax, M C; Gallati, S; Gomez-Lira, M; Audrezet, M P; Férec, C; des Georges, M; Claustres, M; Truninger, K (2011). Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Human Mutation, 32(8):912-920.

Hoischen, A; van Bon, B W M; Rodríguez-Santiago, B; Gilissen, C; Vissers, L E L M; de Vries, P; Janssen, I; van Lier, B; Hastings, R; Smithson, S F; Newbury-Ecob, R; Kjaergaard, S; Goodship, J; McGowan, R; Bartholdi, D; Rauch, A; Peippo, M; Cobben, J M; Wieczorek, D; Gillessen-Kaesbach, G; Veltman, J A; Brunner, H G; de Vries, B B B A (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43(8):729-731.

Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.

Yakut, S; Simsek, M; Pestereli, H E; Baumer, A; Luleci, G; Schinzel, A (2011). Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosis. Genetic Counseling, 22(3):317-319.

Kraft, M; Cirstea, I C; Voss, A K; Thomas, T; Goehring, I; Sheikh, B N; Gordon, L; Scott, H; Smyth, G K; Ahmadian, M R; Trautmann, U; Zenker, M; Tartaglia, M; Ekici, A; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Journal of Clinical Investigation, 121(9):3479-3491.

Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

Zahnleiter, D; Trautmann, U; Ekici, A B; Goehring, I; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. European Journal of Medical Genetics, 54(5):e521-e524.

Templin, C; Ghadri, J R; Rougier, J S; Baumer, A; Kaplan, V; Albesa, M; Sticht, H; Rauch, A; Puleo, C; Hu, D; Barajas-Martinez, H; Antzelevitch, C; Lüscher, T F; Abriel, H; Duru, F (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.

Busche, A; Graul-Neumann, L M; Zweier, C; Rauch, A; Klopocki, E; Horn, D (2011). Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. European Journal of Medical Genetics, 54(3):256-261.

Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, R G; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, N D; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, B B A; Esko, T; Fernandez, B A; Fernández-Aranda, F; Fernández-Real, J M; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, M R; Kooy, R F; Kurg, A; Le Caignec, C; Männik, K; Platt, O S; Sanlaville, D; Van Haelst, M M; Villatoro Gomez, S; Walha, F; Wu, B L; Yu, Y; Abourae, A; Addor, M C; Alembik, Y; Antonarakis, S E; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, H G; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, J M; Cuvellier, J C; David, A; de Freminville, B; Delobel, B; Delrue, M A; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, J S; Elliott, P; Faas, B H W; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, H J; Guichet, A; Guillin, O; Hartikainen, A L; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, G J; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, N V A M; Koolen, D A; Kroisel, P M; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, K D; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, M I; Meitinger, T; Mencarelli, M A; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, N C; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, G P; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, J S; Rieubland, C; Roberts, W; Roetzer, K M; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, D J; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, F J; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, A T; Waeber, G; Wallgren-Pettersson, C; Witwicki, R M; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, J F; Gustafsson, O; Metspalu, A; Scherer, S W; Stefansson, K; Blakemore, A I F; Beckmann, J S; Froguel, P (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, 478(7367):97-102.

Thiel, C; Kessler, K; Giessl, A; Dimmler, A; Shalev, S A; von der Haar, S; Zenker, M; Zahnleiter, D; Stöss, H; Beinder, E; Abou Jamra, R; Ekici, A; Schröder-Kress, N; Aigner, T; Kirchner, T; Reis, A; Brandstätter, J H; Rauch, A (2011). NEK1 mutations cause short-rib polydactyly syndrome type majewski. American Journal of Human Genetics, 88(1):106-14.

Odak, L; Barisić, I; Morozin Pohovski, L; Riegel, M; Schinzel, A (2011). Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report. Croatian Medical Journal, 52(3):415-22.

Kariminejad, A; Kariminejad, R; Moshtagh, A; Zanganeh, M; Kariminejad, M H; Neuenschwander, S; Okoniewski, M; Wey, E; Schinzel, A; Baumer, A (2011). Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. European Journal of Human Genetics, 19(5):555-560.

Kortüm, F; Das, S; Flindt, M; Morris-Rosendahl, D J; Stefanova, I; Goldstein, A; Horn, D; Klopocki, E; Kluger, G; Martin, P; Rauch, A; Roumer, A; Saitta, S; Walsh, L E; Wieczorek, D; Uyanik, G; Kutsche, K; Dobyns, W B (2011). The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics, 48(6):396-406.

Holman, S K; Daniel, P; Jenkins, Z A; Herron, R L; Morgan, T; Savarirayan, R; Chow, C W; Bohring, A; Mosel, A; Lacombe, D; Steiner, B; Schmitt-Mechelke, T; Schroter, B; Raas-Rothschild, A; Miñaur, S G; Porteous, M; Parker, M; Quarrell, O; Tapon, D; Cormier-Daire, V; Mansour, S; Nash, R; Bindoff, L A; Fiskerstrand, T; Robertson, S P (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A, 155(10):2397-2408.

Thiel, C T; Rauch, A (2011). The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):131-142.

Rauch, A (2011). The shortest of the short: Pericentrin mutations and beyond. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):125-130.

Kantaputra, P; Tanpaiboon, P; Porntaveetus, T; Ohazama, A; Sharpe, P; Rauch, A; Hussadaloy, A; Thiel, C T (2011). The smallest teeth in the world are caused by mutations in the PCNT gene. American Journal of Medical Genetics. Part A, 155(6):1398-1403.

2010

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.

Zeisberger, S M; Zoller, S; Riegel, M; Chen, S; Krenning, G; Harmsen, M C; Sachinidis, A; Zisch, A H (2010). Optimization of the culturing conditions of human umbilical cord blood-derived endothelial colony-forming cells under xeno-free conditions applying a transcriptomic approach. Genes to Cells, 15(7):671-687.

Rauch, R; Hofbeck, M; Zweier, C; Koch, A; Zink, S; Trautmann, U; Hoyer, J; Kaulitz, R; Singer, H; Rauch, A (2010). Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of Medical Genetics, 47(5):321-331.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcao, M; Barbosa, A L; Riegel, M (2010). Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25-q31.1)” [Am J Med Genet Part A 152A:977-981]. American Journal of Medical Genetics. Part A, 152A(6):1602-1603.

Shimomura, Y; Agalliu, D; Vonica, A; Luria, V; Wajid, M; Baumer, A; Belli, S; Petukhova, L; Schinzel, A; Brivanlou, A H; Barres, B A; Christiano, A M (2010). APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature Medicine, 464(7291):1043-1047.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcão, M; Barbosa, A L; Riegel, M (2010). Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). American Journal of Medical Genetics. Part A, 152A(4):977-981.

Göhring, I; Tagariello, A; Endele, S; Stolt, C C; Ghassibé, M; Fisher, M; Thiel, C T; Trautmann, U; Vikkula, M; Winterpacht, A; FitzPatrick, D R; Rauch, A (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2):91-98.

Steiner, B; Bartholdi, D (2010). Medizinische Genetik: Geld, Geist und Gene. Swiss Medical Forum, 10(1-2):8-10.

Smigiel, R; Szafranska, A; Czyzewska, M; Rauch, A; Zweier, C; Patkowski, D (2010). Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics:1-3.

Minder, E I; Schneider-Yin, X; Mamet, R; Horev, L; Neuenschwander, S; Baumer, A; Austerlitz, F; Puy, H; Schoenfeld, N (2010). A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. Journal of the European Academy of Dermatology and Venereology, 24(11):1349-1353.

Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V (2010). Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene. American Journal of Medical Genetics. Part A, 152A(2):313-318.

Renard, M; Holm, T; Regan, V; Callewaert, B L; Adès, L C; Baspinar, O; Pickart, A; Dasouki, M; Hoyer, J; Rauch, A; Trapane, P; Earing, M G; Coucke, P J; Sakai, L Y; Dietz, H C; De Paepe, A M; Loeys, B L (2010). Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics, 18(8):895-901.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum. Molecular Syndromology:99-112.

Rauch, A (2010). Editorial. Molecular Syndromology, 1(1):1.

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.

Isidor, B; Pichon, O; Redon, R; Day-Salvatore, D; Hamel, A; Siwicka, K A; Bitner-Glindzicz, M; Heymann, D; Kjellén, L; Kraus, C; Leroy, J G; Mortier, G R; Rauch, A; Verloes, A; David, A; Le Caignec, C (2010). Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. American Journal of Human Genetics, 87(1):95-100.

Sharp, A J; Migliavacca, E; Dupre, Y; Stathaki, E; Sailani, M R; Baumer, A; Schinzel, A; Mackay, D J; Robinson, D O; Cobellis, G; Cobellis, L; Brunner, H G; Steiner, B; Antonarakis, S E (2010). Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research, 20(9):1271-1278.

Johnston, J J; Sapp, J C; Turner, J T; et al; Stephan, M J (2010). Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Human Mutation, 31(10):1142-1154.

Semenov, O V; Koestenbauer, S; Riegel, M; Zech, N; Zimmermann, R; Zisch, A; Malek, A (2010). Multipotent mesenchymal stem cells from human placenta: critical parameters for isolation and maintenance of stemness after isolation. American Journal of Obstetrics and Gynecology, 202(2):193.e1-193.e13.

Endele, S; Rosenberger, G; Geider, K; Popp, B; Tamer, C; Stefanova, I; Milh, M; Kortüm, F; Fritsch, A; Pientka, F K; Hellenbroich, Y; Kalscheuer, V M; Kohlhase, J; Moog, U; Rappold, G; Rauch, A; Ropers, H H; von Spiczak, S; Tönnies, H; Villeneuve, N; Villard, L; Zabel, B; Zenker, M; Laube, B; Reis, A; Wieczorek, D; Van Maldergem, L; Kutsche, K (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42(11):1021-1026.

Zweier, M; Rauch, A; et al (2010). Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation, 31(6):722-733.

von Kanel, T; Gerber, D; Schaller, A; Baumer, A; Wey, E; Jackson, C B; Gisler, F M; Heinimann, K; Gallati, S (2010). Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clinical Chemistry, 56(7):1098-1106.

Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20):1651-1655.

Allanson, J E; Bohring, A; Dörr, H G; Dufke, A; Gillessen-Kaesbach, G; Horn, D; König, R; Kratz, C P; Kutsche, K; Pauli, S; Raskin, S; Rauch, A; Turner, A; Wieczorek, D; Zenker, M (2010). The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 152A(8):1960-1966.

Makarov, R; Steiner, B; Gucev, Z; Tasic, V; Wieacker, P; Wieland, I (2010). The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Medical Genetics, 11:98.

2009

Vandewalle, J; Van Esch, H; Govaerts, K; Verbeeck, J; Zweier, C; Madrigal, I; Mila, M; Pijkels, E; Fernandez, I; Kohlhase, J; Spaich, C; Rauch, A; Fryns, J P; Marynen, P; Froyen, G (2009). Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. American Journal of Human Genetics, 85(6):809-822.

Zweier, C; de Jong, E K; Zweier, M; Oricco, A; Ousager, L B; Collins, A L; Bijlsma, E K; Oortveld, M A V; Ekici, A B; Reis, A; Schenck, A; Rauch, A (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American Journal of Human Genetics, 85(5):655-666.

Lyle, R; Béna, F; Sarantis, G; Gehrig, C; Lopez, G; Schinzel, A; Lespinasse, J; Bottani, A; Dahoun, S; Taine, L; Doco-Fenzy, M; Cornillet-Lefèbvre, P; Pelet, A; Lyonnet, S; Toutain, A; Colleaux, L; Horst, J; Kennerknecht, I; Wakamatsu, N; Descartes, M; Franklin, J C; Florentin-Arar, L; Kitsiou, S; Yahya-Graison, E A; Costantine, M; Sinet, P M; Delabar, J M; Antonarakis, S E (2009). Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. European Journal of Human Genetics, 17(4):454-466.

Lemke, J R; Beck-Wödl, S; Zankl, A; Riegel, M; Krämer, G; Dorn, T (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure - European Journal of Epilepsy, 18(9):660-663.

Segel, R; Levy-Lahad, E; Pasutto, F; Picard, E; Rauch, A; Alterescu, G; Schimmel, M S (2009). Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? American Journal of Medical Genetics. Part A, 149A(11):2457-2463.

Valencia, M; Lapunzina, P; Lim, D; Zannolli, R; Bartholdi, D; Wollnik, B; Al-Ajlouni, O; Eid, S S; Cox, H; Buoni, S; Hayek, J; Martinez-Frias, M L; Perez-Aytes, A; Temtamy, S; Aglan, M; Goodship, J A; Ruiz-Perez, V L (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30(12):1667-1675.

Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; López González-Meneses, A; Casalone, R; Weber, A; Brueton, L A; Navarro Delicado, A; Bralo Palomares, M; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46(9):598-606.

Hoyer, J; Kraus, C; Hammersen, G; Geppert, J P; Rauch, A (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clinical Genetics, 76(3):276-281.

Türkkani-Asal, G; Alanay, Y; Turul-Ozgür, T; Zenker, M; Thiel, C; Rauch, A; Unal, S; Gürgey, A; Tezcan, I (2009). Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turkish Journal of Pediatrics, 51(5):493-496.

Cordeddu, V; et al (2009). Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature Genetics, 41(9):1022-1026.

Thiel, C; Wilken, M; Zenker, M; Sticht, H; Fahsold, R; Gusek-Schneider, G C; Rauch, A (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. American Journal of Medical Genetics. Part A, 149A(6):1263-1267.

Tibelius, A; Marhold, J; Zentgraf, H; Heilig, C E; Neitzel, H; Ducommun, B; Rauch, A; Ho, A D; Bartek, J; Krämer, A (2009). Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. Journal of Cell Biology, 185(7):1149-1157.

Hilton, E; Johnston, J; Whalen, S; Okamoto, N; Hatsukawa, Y; Nishio, J; Kohara, H; Hirano, Y; Mizuno, S; Torii, C; Kosaki, K; Manouvrier, S; Boute, O; Perveen, R; Law, C; Moore, A; Fitzpatrick, D; Lemke, J; Fellmann, F; Debray, F G; Dastot-Le-Moal, F; Gerard, M; Martin, J; Bitoun, P; Goossens, M; Verloes, A; Schinzel, A; Bartholdi, D; Bardakjian, T; Hay, B; Jenny, K; Johnston, K; Lyons, M; Belmont, J W; Biesecker, L G; Giurgea, I; Black, G (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10):1325-1335.

Harmsen, M B; Azzarello-Burri, S; García Gonzalez, M M; Gillessen-Kaesbach, G; Meinecke, P; Müller, D; Rauch, A; Rossier, E; Seemanova, E; Spaich, C; Steiner, B; Wieczorek, D; Zenker, M; Kutsche, K (2009). Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European Journal of Human Genetics, 17(10):1207-1215.

Niedrist, D; Lurie, I W; Schinzel, A (2009). 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. European Journal of Human Genetics, 17(8):1086-1091.

Engels, H; Wohlleber, E; Zink, A; Hoyer, J; Ludwig, K U; Brockschmidt, F F; Wieczorek, D; Moog, U; Hellmann-Mersch, B; Weber, R G; Willatt, L; Kreiss-Nachtsheim, M; Firth, H V; Rauch, A (2009). A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. European Journal of Human Genetics, 17(12):1592-9.

Bartholdi, D; Krajewska-Walasek, M; Ounap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46(3):192-197.

Paskulin, Giorgio A; Riegel, Mariluce; Cotter, Philip D; Kiss, Andrea; Rosa, Rafael F M; Zen, Paulo R G; Mombach, Rômulo; Graziadio, Carla (2009). Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. American Journal of Medical Genetics. Part A, 149A(6):1302-1307.

Paskulin, G A; Riegel, M; Cotter, P D; Kiss, A; Rosa, R F M; Zen, P R G; Mombach, R; Graziadio, C (2009). Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A, 149A(6):1302-1307.

Bernier-Latmani, J; Baumer, A; Shaw, P (2009). No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. PLoS ONE, 4(8):e6631.

Eberle, P; Berger, C; Junge, S; Dougoud, S; Valsangiacomo Büchel, Emanuela R; Riegel, M; Schinzel, A; Seger, R; Güngör, T (2009). Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clinical and Experimental Immunology, 155(2):189-198.

Schinzel, A (2009). Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward. European Journal of Human Genetics, 17(11):1525.

2008

Kos, S; Roth, K; Korinth, D; Zeilinger, G; Eich, G (2008). Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. Pediatric Radiology, 38(8):902-906.

Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. European Journal of Medical Genetics, 51(2):113-123.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

Kyburz, A; Bauersfeld, U; Schinzel, A; Riegel, M; Hug, M; Tomaske, M; Valsangiacomo Büchel, Emanuela R (2008). The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatric Cardiology, 29(1):76-83.

Acta Medica Lithuanica. Edited by: Schinzel, A (2008). Vilnius, Lithuania: Lithuanian Academy of Sciences Publishers.

Witsch-Baumgartner, M; Schwentner, I; Gruber, M; Benlian, P; Bertranpetit, J; Bieth, E; Chevy, F; Clusellas, N; Estivill, X; Gasparini, G; Giros, M; Kelley, R I; Krajewska-Walasek, M; Menzel, J; Miettinen, T; Ogorelkova, M; Rossi, M; Scala, I; Schinzel, A; Schmidt, K; Schönitzer, D; Seemanova, E; Sperling, K; Syrrou, M; Talmud, P J; Wollnik, B; Krawczak, M; Labuda, D; Utermann, G (2008). Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of Medical Genetics, 45(4):200-209.

Badertscher, A; Bauersfeld, U; Arbenz, U; Baumgartner, M R; Schinzel, A; Balmer, C (2008). Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica, 97(11):1523-1528.

Tzschach, A; Chen, W; Erdogan, F; Hoeller, A; Ropers, H H; Castellan, Claudio; Ullmann, R; Schinzel, A (2008). Characterization of interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. Part A, 146A(2):197-203.

Tyshchenko, N; Lurie, I; Schinzel, A (2008). Chromosomal map of human brain malformations. Human genetics, 124(1):73-80.

Schinzel, A (2008). Chromosomes came first: first years of human chromosomes. The beginnings of human cytogenetics. European Journal of Human Genetics, 16(6):766-767.

Gaspar, H; Albermann, K; Baumer, A; Schinzel, A (2008). Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance. American Journal of Medical Genetics. Part A, 146A(11):1453-1457.

Schinzel, A (2008). Congenital malformations. European Journal of Human Genetics, 16:274.

Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O (2008). Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Journal of Medical Genetics, 45(3):147-54.

Egyptian Medical Journal of the National Research Center, MJNRC. Edited by: Schinzel, Albert (2008). Cairo: Academy of Scientific Research and Technology.

Bartholdi, D. Epigenetic etiology of rare, complex syndromes: The examples of Rett, Rubinstein-Taybi and Prader-Willi syndrome. 2008, University of Zurich, Faculty of Medicine.

Expert Reviews in Molecular Medicine. Edited by: Schinzel, A (2008). Cambridge, UK: Cambridge University Press.

Poretti, A; Bartholdi, D; Gobara, S; Alber, F D; Boltshauser, E (2008). Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. European Journal of Medical Genetics, 51(3):197-208.

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.

Tyshchenko, Nataliya. Identification of candidate loci for congenital brain defects with the help of unbalanced chromosome aberrations. 2008, University of Zurich, Faculty of Medicine.

Koolen, D A; Sistermans, E A; Nilessen, W; Knight, S J L; Regan, R; Liu, Y T; Kooy, R F; Rooms, L; Romano, C; Fichera, M; Schinzel, A; Baumer, A; Anderlid, B M; Schoumans, J; van Kessel, A G; Nordenskjold, M; de Vries, B B A (2008). Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. European Journal of Human Genetics, 16(3):395-400.

Journal of Human Genetics. Edited by: Schinzel, A (2008). Japan: Springer.

Zech, N H; Wisser, J; Natalucci, G; Riegel, M; Baumer, A; Schinzel, A (2008). Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote. Prenatal Diagnosis, 28(8):759-763.

Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M (2008). Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clinical Genetics, 73(1):62-70.

Prenatal Diagnosis. Edited by: Schinzel, A (2008). United Kingdom: Wiley.

Fricker, T. Retrospektive Analyse von Patienten mit diagnostisch/therapeutischer Hodenbiopsie bei klinisch nicht obstruktiver Azoospermie einschliessend Analyse auf Y-Chromosom-Mikrodeletionen. 2008, University of Zurich, Faculty of Medicine.

Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.

Turkish journal of medical science. Edited by: Schinzel, A (2008). Ankara, Turkey: Türkiye Klinikleri Publishing House.

2007

Patzelt, Felix; Riegel, Markus; Ernst, Udo; Pawelzik, Klaus (2007). Self-organized critical noise amplification in human closed loop control. Frontiers in Computational Neuroscience, 1:4.

2006

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.

This list was generated on Mon Jul 24 00:58:16 2017 CEST.