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Items: 1 to 20 of 40

1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Hum Mol Genet. 2023 Feb 15; 32(4): 595–607. Published online 2022 Sep 9. doi: 10.1093/hmg/ddac227
PMCID:
PMC9896476
ArticlePDF–1.8M
2.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePDF–776K
3.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Int J Mol Sci. 2021 Dec; 22(24): 13294. Published online 2021 Dec 10. doi: 10.3390/ijms222413294
PMCID:
PMC8703989
ArticlePDF–2.7M
4.
Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease
Feng-Juan Gao, Dan-Dan Wang, Fang Chen, Hao-Xiang Sun, Fang-Yuan Hu, Ping Xu, Jiankang Li, Wei Liu, Yu-He Qi, Wei Li, Ming Wang, Shenghai Zhang, Ge-Zhi Xu, Qing Chang, Ji-Hong Wu
Br J Ophthalmol. 2021 Jan; 105(1): 87–92. Published online 2020 Mar 18. doi: 10.1136/bjophthalmol-2020-315878
PMCID:
PMC7788223
ArticlePDF–583K
5.
Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss
Dongmei Yu, Junhuang Zou, Qian Chen, Tian Zhu, Ruifang Sui, Jun Yang
Comput Struct Biotechnol J. 2020; 18: 1363–1382. Published online 2020 Jun 10. doi: 10.1016/j.csbj.2020.05.025
PMCID:
PMC7317166
ArticlePDF–7.2M
6.
Oral N-acetylcysteine improves cone function in retinitis pigmentosa patients in phase I trial
Peter A. Campochiaro, Mustafa Iftikhar, Gulnar Hafiz, Anam Akhlaq, Grace Tsai, Dagmar Wehling, Lili Lu, G. Michael Wall, Mandeep S. Singh, Xiangrong Kong
J Clin Invest. 2020 Mar 2; 130(3): 1527–1541. Published online 2020 Feb 17. doi: 10.1172/JCI132990
PMCID:
PMC7269599
ArticlePDF–4.6M
7.
The Era of Precision Medicine: Reshaping Usher Syndrome
Jinsei Jung
Clin Exp Otorhinolaryngol. 2020 May; 13(2): 87–88. Published online 2020 May 1. doi: 10.21053/ceo.2019.02117
PMCID:
PMC7248599
ArticlePDF–177K
8.
Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning
Nicolas Michalski, Vincent Michel, Amel Bahloul, Gaëlle Lefèvre, Jérémie Barral, Hideshi Yagi, Sébastien Chardenoux, Dominique Weil, Pascal Martin, Jean-Pierre Hardelin, Makoto Sato, Christine Petit
J Neurosci. 2007 Jun 13; 27(24): 6478–6488. doi: 10.1523/JNEUROSCI.0342-07.2007
PMCID:
PMC6672440
ArticlePDF–1.0M
9.
Usher Syndrome and Non-syndromic Deafness: Functions of Different Whirlin Isoforms in the Cochlea, Vestibular Organs, and Retina
Pranav Dinesh Mathur, Jun Yang
Hear Res. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Hear Res. 2019 Apr; 375: 14–24. Published online 2019 Feb 22. doi: 10.1016/j.heares.2019.02.007
PMCID:
PMC6474673
ArticlePDF–923K
10.
Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II
Jeroni Nadal, María Iglesias
BMC Ophthalmol. 2018; 18: 205. Published online 2018 Aug 22. doi: 10.1186/s12886-018-0880-5
PMCID:
PMC6103969
ArticlePDF–2.0M
11.
Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial
Dennis R. Hoffman, Dianna K. Hughbanks-Wheaton, Rand Spencer, Gary E. Fish, N. Shirlene Pearson, Yi-Zhong Wang, Martin Klein, Alison Takacs, Kirsten G. Locke, David G. Birch
Invest Ophthalmol Vis Sci. 2015 Oct; 56(11): 6646–6653. doi: 10.1167/iovs.15-17786
PMCID:
PMC5963311
ArticlePDF–745K
12.
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
D. Baux, C. Vaché, C. Blanchet, M. Willems, C. Baudoin, M. Moclyn, V. Faugère, R. Touraine, B. Isidor, D. Dupin-Deguine, M. Nizon, M. Vincent, S. Mercier, C. Calais, G. García-García, Z. Azher, L. Lambert, Y. Perdomo-Trujillo, F. Giuliano, M. Claustres, M. Koenig, M. Mondain, A. F. Roux
Sci Rep. 2017; 7: 16783. Published online 2017 Dec 1. doi: 10.1038/s41598-017-16846-9
PMCID:
PMC5711943
ArticlePDF–1.4M
13.
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients
Jesse D. Sengillo, Thiago Cabral, Kaspar Schuerch, Jimmy Duong, Winston Lee, Katherine Boudreault, Yu Xu, Sally Justus, Janet R. Sparrow, Vinit B. Mahajan, Stephen H. Tsang
Sci Rep. 2017; 7: 11170. Published online 2017 Sep 11. doi: 10.1038/s41598-017-11679-y
PMCID:
PMC5593892
ArticlePDF–3.4M
14.
Partial USH2A deletions contribute to Usher syndrome in Denmark
Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen, Lisbeth B Møller
Eur J Hum Genet. 2015 Dec; 23(12): 1646–1651. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.54
Correction in:
Eur J Hum Genet. 2015 Dec; 23(12): 1750.
PMCID:
PMC4795208
ArticlePDF–1.2M
15.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A. Radu Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, Patricia Bignell, Edward Blair, Veronica J Buckle, Katherine Bull, Ondrej Cais, Holger Cario, Helen Chapel, Richard R Copley, Richard Cornall, Jude Craft, Karin Dahan, Emma E Davenport, Calliope Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V Gruszczyk, Robert Hastings, Edouard Hatton, Doug Higgs, Adrian Hill, Chris Holmes, Malcolm Howard, Linda Hughes, Peter Humburg, David Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C Knight, Jonathan Krohn, Sarah Lamble, Craig Langman, Lorne Lonie, Joshua Luck, Davis McCarthy, Simon J McGowan, Mary Frances McMullin, Kerry A Miller, Lisa Murray, Andrea H Németh, M Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Bang Oturai, Alistair Pagnamenta, Smita Y Patel, Melanie Percy, Nayia Petousi, Paolo Piazza, Sian E Piret, Guadalupe Polanco-Echeverry, Niko Popitsch, Fiona Powrie, Chris Pugh, Lynn Quek, Peter A Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A van Schouwenburg, Anna Schuh, Earl Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V Thakker, Ian Tomlinson, Amy Trebes, Stephen RF Twigg, Holm H Uhlig, Paresh Vyas, Tim Vyse, Steven A Wall, Hugh Watkins, Michael P Whyte, Lorna Witty, Ben Wright, Chris Yau, David Buck, Sean Humphray, Peter J Ratcliffe, John I Bell, Andrew OM Wilkie, David Bentley, Peter Donnelly, Gilean McVean
Nat Genet. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Nat Genet. 2015 Jul; 47(7): 717–726. Published online 2015 May 18. doi: 10.1038/ng.3304
PMCID:
PMC4601524
ArticlePDF–1.3M
16.
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J Coffey, Heather B Steele-Stallard, Anthony T Moore, Karen P Steel, Linda M Luxon, Elise Héon, Maria Bitner-Glindzicz, Andrew R Webster
Eur J Hum Genet. 2015 Oct; 23(10): 1318–1327. Published online 2015 Feb 4. doi: 10.1038/ejhg.2014.283
PMCID:
PMC4592079
ArticlePDF–1.9M
17.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
18.
A large deletion in GPR98 causes type IIC Usher syndrome in male and female patients of an Iranian family
Nele Hilgert, Kimia Kahrizi, Hossein Najmabadi, Nele Dieltjens, Niloofar Bazazzadegan, Richard JH Smith, Guy Van Camp
J Med Genet. Author manuscript; available in PMC 2015 May 15.
Published in final edited form as: J Med Genet. 2009 Apr; 46(4): 272–276. doi: 10.1136/jmg.2008.060947
PMCID:
PMC4432478
ArticlePDF–449K
19.
Usher syndrome: hearing loss, retinal degeneration and associated abnormalities
Pranav Mathur, Jun Yang
Biochim Biophys Acta. Author manuscript; available in PMC 2016 Mar 1.
Published in final edited form as: Biochim Biophys Acta. 2015 Mar; 1852(3): 406–420. Published online 2014 Dec 4. doi: 10.1016/j.bbadis.2014.11.020
PMCID:
PMC4312720
ArticlePDF–1.3M
20.
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
Andrea Sodi, Alessandro Mariottini, Ilaria Passerini, Vittoria Murro, Iryna Tachyla, Benedetta Bianchi, Ugo Menchini, Francesca Torricelli
Mol Vis. 2014; 20: 1717–1731. Published online 2014 Dec 23.
PMCID:
PMC4279600
ArticlePDF–4.7M

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