Hereditary eye disease

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Xia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Keqing Wang, Huanan Ren, Irma Lopez, Jacques E Zaneveld, Sorath Siddiqui, Stephanie Bowles, Ayesha Khan, Jason Salvo, Samuel G Jacobson, Alessandro Iannaccone, Feng Wang, David Birch, John R Heckenlively, Gerald A Fishman, Elias I Traboulsi, Yumei Li, Dianna Wheaton, Robert K Koenekoop, Rui Chen

Journal of Medical Genetics Oct 2013, 50 (10) 674-688; DOI: 10.1136/jmedgenet-2013-101558
CEP78 is mutated in a distinct type of Usher syndrome
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen

Journal of Medical Genetics Mar 2017, 54 (3) 190-195; DOI: 10.1136/jmedgenet-2016-104166
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
E Aller, T Jaijo, M Beneyto, C Nájera, S Oltra, C Ayuso, M Baiget, M Carballo, G Antiñolo, D Valverde, F Moreno, C Vilela, D Collado, H Pérez-Garrigues, A Navea, J M Millán

Journal of Medical Genetics Nov 2006, 43 (11) e55; DOI: 10.1136/jmg.2006.041764
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, S Amselem

Journal of Medical Genetics Apr 2006, 43 (4) 326-333; DOI: 10.1136/jmg.2005.034868
Inherited mitochondrial optic neuropathies
P Yu-Wai-Man, P G Griffiths, G Hudson, P F Chinnery

Journal of Medical Genetics Mar 2009, 46 (3) 145-158; DOI: 10.1136/jmg.2007.054270
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump

Journal of Medical Genetics Jun 2016, 53 (6) 419-425; DOI: 10.1136/jmedgenet-2015-103511
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
P L Beales, N Elcioglu, A S Woolf, D Parker, F A Flinter

Journal of Medical Genetics Jun 1999, 36 (6) 437-446; DOI: 10.1136/jmg.36.6.437
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
E Ostergaard, M Batbayli, M Duno, K Vilhelmsen, T Rosenberg

Journal of Medical Genetics Oct 2010, 47 (10) 665-669; DOI: 10.1136/jmg.2009.069120
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus

Journal of Medical Genetics Feb 2014, 51 (2) 132-136; DOI: 10.1136/jmedgenet-2013-101785
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy
N Fuhrmann, M V Alavi, P Bitoun, S Woernle, G Auburger, B Leo-Kottler, P Yu-Wai-Man, P Chinnery, B Wissinger

Journal of Medical Genetics Feb 2009, 46 (2) 136-144; DOI: 10.1136/jmg.2008.062570

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Hereditary eye disease

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