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Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses Singh, Sushma; Penney, Cindy; Griffin, Anne; Woodland, Geoffrey; Werdyani, Salem; Benteau, Tammy A. A.; Abdelfatah, Nelly; Squires, Jessica; King, Beverly; Houston, Jim; Dyer, Matthew J.; Roslin, Nicole M. M.; Vincent, Daniel; Marquis, Pascale; O'Rielly, Darren D. D.; Hodgkinson, Kathy; Burt, Taylor; Baker, Ashley; Stanton, Susan G. G.; Young, Terry-Lynn 分享 收藏
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene Pater, Justin A.; Penney, Cindy; O'Rielly, Darren D.; Griffin, Anne; Kamal, Lara; Brownstein, Zippora; Vona, Barbara; Vinkler, Chana; Shohat, Mordechai; Barel, Ortal; French, Curtis R.; Singh, Sushma; Werdyani, Salem; Burt, Taylor; Abdelfatah, Nelly; Houston, Jim; Doucette, Lance P.; Squires, Jessica; Glaser, Fabian; Roslin, Nicole M.; Vincent, Daniel; Marquis, Pascale; Woodland, Geoffrey; Benoukraf, Touati; Hawkey-Noble, Alexia; Avraham, Karen B.; Stanton, Susan G.; Young, Terry-Lynn 分享 收藏
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene Abdelfatah, Nelly; Mostafa, Ahmed A.; French, Curtis R.; Doucette, Lance P.; Penney, Cindy; Lucas, Matthew B.; Griffin, Anne; Booth, Valerie; Rowley, Christopher; Besaw, Jessica E.; Tranebjaerg, Lisbeth; Rendtorff, Nanna Dahl; Hodgkinson, Kathy A.; Little, Leichelle A.; Agrawal, Sumit; Parnes, Lorne; Batten, Tony; Moore, Susan; Hu, Pingzhao; Pater, Justin A.; Houston, Jim; Galutira, Dante; Benteau, Tammy; MacDonald, Courtney; French, Danielle; O'Rielly, Darren D.; Stanton, Susan G.; Young, Terry-Lynn 分享 收藏
Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy Paulin, Frederic L.; Hodgkinson, Kathleen A.; MacLaughlan, Sarah; Stuckless, Susan N.; Templeton, Christina; Shah, Suryakant; Bremner, Heather; Roberts, Jason D.; Young, Terry-Lynn; Parfrey, Patrick S.; Connors, Sean P. 分享 收藏
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate Green, Jane S.; O'Rielly, Darren D.; Pater, Justin A.; Houston, Jim; Rajabi, Hoda; Galutira, Dante; Benteau, Tammy; Sheaves, Amy; Abdelfatah, Nelly; Bautista, Donna; Whelan, Jim; Young, Terry-Lynn 分享 收藏
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect Pater, Justin A.; Benteau, Tammy; Griffin, Anne; Penney, Cindy; Stanton, Susan G.; Predham, Sarah; Kielley, Bernadine; Squires, Jessica; Zhou, Jiayi; Li, Quan; Abdelfatah, Nelly; O'Rielly, Darren D.; Young, Terry-Lynn 分享 收藏
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Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy Hodgkinson, Kathleen A.; Howes, A. J.; Boland, Paul; Shen, Xiou Seegar; Stuckless, Susan; Young, Terry-Lynn; Curtis, Fiona; Collier, Ashley; Parfrey, Patrick S.; Connors, Sean P. 分享 收藏
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL Abdelfatah, Nelly; McComiskey, David A.; Doucette, Lance; Griffin, Anne; Moore, Susan J.; Negrijn, Carol; Hodgkinson, Kathy A.; King, Justin J.; Larijani, Mani; Houston, Jim; Stanton, Susan G.; Young, Terry-Lynn 分享 收藏
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada Haywood, Annika F. M.; Merner, Nancy D.; Hodgkinson, Kathy A.; Houston, Jim; Syrris, Petros; Booth, Valerie; Connors, Sean; Pantazis, Antonios; Quarta, Giovanni; Elliott, Perry; McKenna, William; Young, Terry-Lynn 分享 收藏
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Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities Schrader, Kasmintan A.; Heravi-Moussavi, Alireza; Waters, Paula J.; Senz, Janine; Whelan, James; Ha, Gavin; Eydoux, Patrice; Nielsen, Torsten; Gallagher, Barry; Oloumi, Arusha; Boyd, Niki; Fernandez, Bridget A.; Young, Terry-Lynn; Jones, Steven J. M.; Hirst, Martin; Shah, Sohrab P.; Marra, Marco A.; Green, Jane; Huntsman, David G. 分享 收藏
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Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 (vol 17, pg 554, 2009) Doucette, Lance; Merner, Nancy D.; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S.; Wilcox, Edward R.; Shotland, Lawrence I.; Li, Xiaoyan Cindy; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn 分享 收藏
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Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 Doucette, Lance; Merner, Nancy D.; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S.; Wilcox, Edward R.; Shotland, Larry; Li, X. C.; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn 分享 收藏
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene Merner, Nancy D.; Hodgkinson, Kathy A.; Haywood, Annika F. M.; Connors, Sean; French, Vanessa M.; Drenckhahn, Joerg-Detlef; Kupprion, Christine; Ramadanova, Kalina; Thierfelder, Ludwig; McKenna, William; Gallagher, Barry; Morris-Larkin, Lynn; Bassett, Anne S.; Parfrey, Patrick S.; Young, Terry-Lynn 分享 收藏
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