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, Jörg-Detlef, Kupprion, Christine, Ramadanova, Kalina, Thierfelder, Ludwig, McKenna, William, Gallagher, Barry, Morris-Larkin, Lynn, Bassett, Anne S., Parfrey, Patrick S., Young, Terry-Lynn
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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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
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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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
Published in European journal of human genetics : EJHG (01.07.2020)
Published in European journal of human genetics : EJHG (01.07.2020)
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Journal Article
Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis
Hawkey-Noble, Alexia, Pater, Justin A., Kollipara, Roshni, Fitzgerald, Meriel, Maekawa, Alexandre S., Kovacs, Christopher S., Young, Terry-Lynn, French, Curtis R.
Published in Genes (21.06.2022)
Published in Genes (21.06.2022)
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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., Tranebjærg, 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
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Pater, Justin A, Green, Jane, O'Rielly, Darren D, Griffin, Anne, Squires, Jessica, Burt, Taylor, Fernandez, Sara, Fernandez, Bridget, Houston, Jim, Zhou, Jiayi, Roslin, Nicole M, Young, Terry-Lynn
Published in BMC medical genetics (02.05.2019)
Published in BMC medical genetics (02.05.2019)
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A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect
Dawson, Lesa M., Smith, Kerri N., Werdyani, Salem, Ndikumana, Robyn, Penney, Cindy, Wiede, Louisa L., Smith, Kendra L., Pater, Justin A., MacMillan, Andrée, Green, Jane, Drover, Sheila, Young, Terry‐Lynn, O’Rielly, Darren D.
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect
Abdelfatah, Nelly, Merner, Nancy, Houston, Jim, Benteau, Tammy, Griffin, Anne, Doucette, Lance, Stockley, Tracy, Lauzon, Julie L., Young, Terry-Lynn
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
Cryns, Kim, Sivakumaran, Theru A., Van den Ouweland, Jody M.W., Pennings, Ronald J.E., Cremers, Cor W.R.J., Flothmann, Kris, Young, Terry-Lynn, Smith, Richard J.H., Lesperance, Marci M., Camp, Guy Van
Published in Human mutation (01.10.2003)
Published in Human mutation (01.10.2003)
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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 JM, Hirst, Martin, Shah, Sohrab P, Marra, Marco A, Green, Jane, Huntsman, David G
Published in The Journal of pathology (01.09.2011)
Published in The Journal of pathology (01.09.2011)
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X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care
Stanton, Susan G, Griffin, Anne, Stockley, Tracy L, Brown, Christine, Young, Terry-Lynn, Benteau, Tammy, Abdelfatah, Nelly
Published in American journal of audiology (01.06.2014)
Published in American journal of audiology (01.06.2014)
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Journal Article
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, GREEN, Jane S, WILCOX, Edward R, SHOTLAND, Larry, LI, X. C, LEE, Ming, KING, Mary-Claire, YOUNG, Terry-Lynn, COOKE, Sandra, IVES, Elizabeth, GALUTIRA, Dante, WALSH, Vanessa, WALSH, Tom, MACLAREN, Linda, CATER, Tracey, FERNANDEZ, Bridget
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Journal Article
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, Abdelfatah, Nelly, Squires, Jessica, King, Beverly, Houston, Jim, Dyer, Matthew J, Roslin, Nicole M, Vincent, Daniel, Marquis, Pascale, O'Rielly, Darren D, Hodgkinson, Kathy, Burt, Taylor, Baker, Ashley, Stanton, Susan G, Young, Terry-Lynn
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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Journal Article
"Something is just not right with my hearing": early experiences of adults living with hearing loss
Pike, April, Moodie, Sheila, Parsons, Karen, Griffin, Anne, Smith-Young, Joanne, Young, Terry-Lynn, Mills, Leon, Barrett, Myrtle, Rowe, Leanna, Parsons, Marie, Kielley, Henry, Fleming, Michael
Published in International journal of audiology (02.09.2022)
Published in International journal of audiology (02.09.2022)
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Journal Article
Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy
Paulin, Frédéric 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.
Published in Heart rhythm (01.07.2020)
Published in Heart rhythm (01.07.2020)
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Journal Article
Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy
Etchegary, Holly, Enright, Glenn, Audas, Rick, Pullman, Daryl, Young, Terry-Lynn, Hodgkinson, Kathy
Published in Genetics in medicine (01.06.2016)
Published in Genetics in medicine (01.06.2016)
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Journal Article
Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?
Brothers, Cassidy, Etchegary, Holly, Curtis, Fiona, Simmonds, Charlene, Houston, Jim, Young, Terry-Lynn, Pullman, Daryl, Mariathas, Hensley H., Connors, Sean, Hodgkinson, Kathleen
Published in Public health genomics (01.11.2021)
Published in Public health genomics (01.11.2021)
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Journal Article
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
Published in Circulation. Arrhythmia and electrophysiology (01.03.2016)
Published in Circulation. Arrhythmia and electrophysiology (01.03.2016)
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Journal Article
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
Published in European heart journal (01.04.2013)
Published in European heart journal (01.04.2013)
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Journal Article
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly
DOUCETTE, Lance, GREEN, Jane, FERNANDEZ, Bridget, JOHNSON, Gordon J, PARFREY, Patrick, YOUNG, Terry-Lynn
Published in European journal of human genetics : EJHG (01.03.2011)
Published in European journal of human genetics : EJHG (01.03.2011)
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