PMC Links for OMIM (Select 617236) - PMC

Select item 92339011.

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Austin D. Igelman, Cristy Ku, Mariana Matioli da Palma, Michalis Georgiou, Elena R. Schiff, Byron L. Lam, Eeva-Marja Sankila, Jeeyun Ahn, Lindsey Pyers, Ajoy Vincent, Juliana Maria Ferraz Sallum, Wadih M. Zein, Jin Kyun, Ramiro S. Maldonado, Joseph Ryu, Stephen H. Tsang, Michael B. Gorin, Andrew R. Webster, Michel Michaelides, Paul Yang, Mark E. Pennesi

Ophthalmic Genet. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Ophthalmic Genet. 2021 Dec; 42(6): 664–673. Published online 2021 Jul 5. doi: 10.1080/13816810.2021.1946704

PMCID:: PMC9233901

Article PDF–1.1M

Select item 82045212.

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Ren-Juan Shen, Jun-Gang Wang, Yang Li, Zi-Bing Jin

Orphanet J Rare Dis. 2021; 16: 278. Published online 2021 Jun 15. doi: 10.1186/s13023-021-01902-5

PMCID:: PMC8204521

Article PDF–3.4M

Select item 71872883.

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Riet De Rycke, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte B. Pedersen, Thomas Klopstock, Carlo Rivolta, Bart P. Leroy, Elfride De Baere, Frauke Coppieters

Hum Mutat. 2020 May; 41(5): 998–1011. Published online 2020 Feb 12. doi: 10.1002/humu.23993

PMCID:: PMC7187288

Article PDF–5.6M

Select item 62356894.

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

J Med Genet. Author manuscript; available in PMC 2018 Nov 14.

Published in final edited form as: J Med Genet. 2017 Mar; 54(3): 190–195. Published online 2016 Sep 14. doi: 10.1136/jmedgenet-2016-104166

PMCID:: PMC6235689

Article PDF–964K

Select item 50110765.

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H. Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben-Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon

Am J Hum Genet. 2016 Sep 1; 99(3): 777–784. Published online 2016 Sep 1. doi: 10.1016/j.ajhg.2016.07.010

Correction in:: Am J Hum Genet. 2016 Nov 3; 99(5): 1222–1223.

PMCID:: PMC5011076

Article PDF–1.4M

Select item 50110746.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K. Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V. Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre P. Moulin, Frans P.M. Cremers, Ronald Roepman, Yvan Arsenijevic, Miltiadis K. Tsilimbaris, Sten Andréasson, Carlo Rivolta

Am J Hum Genet. 2016 Sep 1; 99(3): 770–776. Published online 2016 Sep 1. doi: 10.1016/j.ajhg.2016.07.009

PMCID:: PMC5011074

Article PDF–1.3M

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