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Select item 98964761.

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

Abstract Article PDF–1.8M

Select item 50355912.

Five-year safety and performance results from the Argus II Retinal Prosthesis System clinical trial

Lyndon da Cruz, Jessy D. Dorn, Mark S. Humayun, Gislin Dagnelie, James Handa, Pierre-Olivier Barale, José-Alain Sahel, Paulo E. Stanga, Farhad Hafezi, Avinoam B. Safran, Joel Salzmann, Arturo Santos, David Birch, Rand Spencer, Artur V. Cideciyan, Eugene de Juan, Jacque L. Duncan, Dean Eliott, Amani Fawzi, Lisa C. Olmos de Koo, Allen C. Ho, Gary Brown, Julia Haller, Carl Regillo, Lucian V. Del Priore, Aries Arditi, Robert J. Greenberg, , for the Argus II Study Group

Ophthalmology. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Ophthalmology. 2016 Oct; 123(10): 2248–2254. Published online 2016 Jul 21. doi: 10.1016/j.ophtha.2016.06.049

PMCID:: PMC5035591

Abstract Article PDF–218K

Select item 46015243.

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

Abstract Article PDF–1.3M

Select item 44978094.

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

J.W.B. Bainbridge, M.S. Mehat, V. Sundaram, S.J. Robbie, S.E. Barker, C. Ripamonti, A. Georgiadis, F.M. Mowat, S.G. Beattie, P.J. Gardner, K.L. Feathers, V.A. Luong, S. Yzer, K. Balaggan, A. Viswanathan, T.J.L. de Ravel, I. Casteels, G.E. Holder, N. Tyler, F.W. Fitzke, R.G. Weleber, M. Nardini, A.T. Moore, D.A. Thompson, S.M. Petersen-Jones, M. Michaelides, L.I. van den Born, A. Stockman, A.J. Smith, G. Rubin, R.R. Ali

N Engl J Med. Author manuscript; available in PMC 2015 Nov 14.

Published in final edited form as: N Engl J Med. 2015 May 14; 372(20): 1887–1897. Published online 2015 May 4. doi: 10.1056/NEJMoa1414221

PMCID:: PMC4497809

Abstract Article PDF–1005K

Select item 44503625.

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

Samuel G. Jacobson, Artur V. Cideciyan, Alejandro J. Roman, Alexander Sumaroka, Sharon B. Schwartz, Elise Heon, William W. Hauswirth

N Engl J Med. Author manuscript; available in PMC 2015 Nov 14.

Published in final edited form as: N Engl J Med. 2015 May 14; 372(20): 1920–1926. Published online 2015 May 3. doi: 10.1056/NEJMoa1412965

PMCID:: PMC4450362

Abstract Article PDF–922K

Select item 44139266.

VFMA: Topographic Analysis of Sensitivity Data From Full-Field Static Perimetry

Richard G. Weleber, Travis B. Smith, Dawn Peters, Elvira N. Chegarnov, Scott P. Gillespie, Peter J. Francis, Stuart K. Gardiner, Jens Paetzold, Janko Dietzsch, Ulrich Schiefer, Chris A. Johnson

Transl Vis Sci Technol. 2015 Apr; 4(2): 14. Published online 2015 Apr 28. doi: 10.1167/tvst.4.2.14

PMCID:: PMC4413926

Abstract Article PDF–1.6M

Select item 41119367.

Randomized Trial of Ciliary Neurotrophic Factor Delivered by Encapsulated Cell Intraocular Implants for Retinitis Pigmentosa

DAVID G. BIRCH, RICHARD G. WELEBER, JACQUE L. DUNCAN, GLENN J. JAFFE, WENG TAO

Am J Ophthalmol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Am J Ophthalmol. 2013 Aug; 156(2): 283–292.e1. Published online 2013 May 10. doi: 10.1016/j.ajo.2013.03.021

PMCID:: PMC4111936

Abstract Article PDF–400K

Select item 40310428.

Adaptive Optics Retinal Imaging – Clinical Opportunities and Challenges

Joseph Carroll, David B. Kay, Drew Scoles, Alfredo Dubra, Marco Lombardo

Curr Eye Res. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Curr Eye Res. 2013 Jul; 38(7): 709–721. Published online 2013 Apr 26. doi: 10.3109/02713683.2013.784792

PMCID:: PMC4031042

Abstract Article PDF–1.3M

Select item 39454419.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques E. Zaneveld, Jason S. Salvo, Sorath Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma Lopez, Raheel Qamar, Juan C. Zenteno, Raul Ayala-Ramirez, Beatriz-Buentello-Volante, Qing Fu, David A. Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen

Hum Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Genet. 2014 Mar; 133(3): 331–345. Published online 2013 Oct 24. doi: 10.1007/s00439-013-1381-5

PMCID:: PMC3945441

Abstract Article PDF–1.6M

Select item 385653110.

Genes and mutations causing retinitis pigmentosa

SP Daiger, LS Sullivan, SJ Bowne

Clin Genet. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 10.1111/cge.12203. Published online 2013 Jun 19. doi: 10.1111/cge.12203

PMCID:: PMC3856531

Abstract Article PDF–231K

Select item 368300911.

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M. Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

PLoS One. 2013; 8(6): e65574. Published online 2013 Jun 14. doi: 10.1371/journal.pone.0065574

Correction in:: PLoS One. 2016; 11(3): e0153121.

PMCID:: PMC3683009

Abstract Article PDF–389K

Select item 367411212.

Three Year Follow-Up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Francesco Testa, Albert M Maguire, Settimio Rossi, Eric A Pierce, Paolo Melillo, Kathleen Marshall, Sandro Banfi, Enrico M. Surace, Junwei Sun, Carmela Acerra, J. Fraser Wright, Jennifer Wellman, Katherine A High, Alberto Auricchio, Jean Bennett, Francesca Simonelli

Ophthalmology. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Ophthalmology. 2013 Jun; 120(6): 1283–1291. Published online 2013 Mar 6. doi: 10.1016/j.ophtha.2012.11.048

PMCID:: PMC3674112

Abstract Article PDF–2.4M

Select item 360081613.

Gene Therapy for Leber Congenital Amaurosis caused by RPE65 mutations: Safety and Efficacy in Fifteen Children and Adults Followed up to Three Years

Samuel G. Jacobson, Artur V. Cideciyan, Ramakrishna Ratnakaram, Elise Heon, Sharon B. Schwartz, Alejandro J. Roman, Marc C. Peden, Tomas S. Aleman, Sanford L. Boye, Alexander Sumaroka, Thomas J. Conlon, Roberto Calcedo, Ji-jing Pang, Kirsten E. Erger, Melani B. Olivares, Cristina L. Mullins, Malgorzata Swider, Shalesh Kaushal, Willam J. Feuer, Alessandro Iannaccone, Gerald A. Fishman, Edwin M. Stone, Barry J. Byrne, William W. Hauswirth

Arch Ophthalmol. Author manuscript; available in PMC 2013 Mar 18.

Published in final edited form as: Arch Ophthalmol. 2012 Jan; 130(1): 9–24. Published online 2011 Sep 12. doi: 10.1001/archophthalmol.2011.298

PMCID:: PMC3600816

Abstract Article PDF–3.3M

Select item 359719214.

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan, Richard Alan Lewis, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Stephen P. Daiger

Invest Ophthalmol Vis Sci. 2013 Feb; 54(2): 1411–1416. Published online 2013 Feb 19. doi: 10.1167/iovs.12-11541

PMCID:: PMC3597192

Abstract Article PDF–369K

Select item 355238415.

Omega-3 Intake and Visual Acuity in Patients with Retinitis Pigmentosa on Vitamin A

Eliot L. Berson, Bernard Rosner, Michael A. Sandberg, Carol Weigel-DiFranco, Walter C. Willett

Arch Ophthalmol. Author manuscript; available in PMC 2013 Jan 23.

Published in final edited form as: Arch Ophthalmol. 2012 Jun; 130(6): 707–711. doi: 10.1001/archophthalmol.2011.2580

PMCID:: PMC3552384

Abstract Article PDF–554K

Select item 352244316.

Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

Kari Branham, Mohammad Othman, Matthew Brumm, Athanasios J. Karoukis, Pelin Atmaca-Sonmez, Beverly M. Yashar, Sharon B. Schwartz, Niamh B. Stover, Karmen Trzupek, Dianna Wheaton, Barbara Jennings, Maria Laura Ciccarelli, K. Thiran Jayasundera, Richard A. Lewis, David Birch, Jean Bennett, Paul A. Sieving, Sten Andreasson, Jacque L. Duncan, Gerald A. Fishman, Alessandro Iannaccone, Richard G. Weleber, Samuel G. Jacobson, John R. Heckenlively, Anand Swaroop

Invest Ophthalmol Vis Sci. 2012 Dec; 53(13): 8232–8237. Published online 2012 Dec 13. doi: 10.1167/iovs.12-11025

PMCID:: PMC3522443

Abstract Article PDF–157K

Select item 349037617.

Next-generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari E. Branham, Anneke I. den Hollander, Alexander Hoischen, Carel Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers, Hans Scheffer

Hum Mutat. 2012 Jun; 33(6): 963–972. Published online 2012 Feb 14. doi: 10.1002/humu.22045

PMCID:: PMC3490376

Abstract Article PDF–459K

Select item 335212118.

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz

Orphanet J Rare Dis. 2012; 7: 8. Published online 2012 Jan 25. doi: 10.1186/1750-1172-7-8

PMCID:: PMC3352121

Abstract Article PDF–857K

Select item 298938519.

The Neuro-Ophthalmology of Mitochondrial Disease

J. Alexander Fraser, Valérie Biousse, Nancy J. Newman

Surv Ophthalmol. Author manuscript; available in PMC 2010 Nov 21.

Published in final edited form as: Surv Ophthalmol. 2010 Jul 8; 55(4): 299–334. Published online 2010 May 14. doi: 10.1016/j.survophthal.2009.10.002

PMCID:: PMC2989385

Abstract Article PDF–2.2M

Select item 298759420.

Clinical Trial of Lutein in Patients with Retinitis Pigmentosa Receiving Vitamin A

Eliot L. Berson, Bernard Rosner, Michael A. Sandberg, Carol Weigel-DiFranco, Robert J. Brockhurst, K.C. Hayes, Elizabeth J. Johnson, Ellen J. Anderson, Chris A. Johnson, Alexander R. Gaudio, Walter C. Willett, Ernst J. Schaefer

Arch Ophthalmol. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Arch Ophthalmol. 2010 Apr; 128(4): 403–411. doi: 10.1001/archophthalmol.2010.32