Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene von 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

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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5) von Hodgkinson, Kathy A., Parfrey, Patrick S., Bassett, Anne S., Kupprion, Christine, Drenckhahn, Jörg, Norman, Mark W., Thierfelder, Ludwig, Stuckless, Susan N., Dicks, Elizabeth L., McKenna, William J., Connors, Sean P.

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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene von 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

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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada von 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

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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL von 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

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“There are days I wish it wasn’t there, and there’s days I realize I’m lucky”: A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a trea... von Etchegary, Holly, Pullman, Daryl, Connors, Sean P, Simmonds, Charlene, Young, Terry-Lynn, Hodgkinson, Kathy A

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Intrafamilial variability in cleidocranial dysplasia: A three generation family von Chitayat, David, Hodgkinson, Kathy A., Azouz, E. Michel

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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). Commentary von HODGKINSON, Kathy A, PARFREY, Patrick S, CONNORS, Sean P, WICHTER, Thomas, BREITHARDT, Günter, BASSETT, Anne S, KUPPRION, Christine, DRENCKHAHN, Jörg, NORMAN, Mark W, THIERFELDER, Ludwig, STUCKLESS, Susan N, DICKS, Elizabeth L, MCKENNA, William J

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Acrania: A manifestation of the Adams-Oliver syndrome von Chitayat, David, Meunier, Catherine, Hodgkinson, Kathy A., Robb, Laura, Azouz, Michael

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The provision of genetic counselling for persons with schizophrenia and their relatives von Hodgkinson, Kathy A., Macgregor, David J., Shuman, Cheryl, Bassett, Anne S.

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Mucolipidosis type IV: Clinical manifestations and natural history von Chitayat, David, Meunier, Catherine M., Hodgkinson, Kathy A., Silver, Kenneth, Flanders, Michael, Anderson, Ilse J., Little, John M., Whiteman, David A. H., Carpenter, Stirling

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Branchio-Oto-Renal syndrome: Further delineation of an underdiagnosed syndrome von Chitayat, David, Hodgkinson, Kathy A., Chen, Moy-Fong, Haber, George D., Nakishima, Shigeto, Sando, Isamu

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King syndrome: A genetically heterogenous phenotype due to congenital myopathies von Chitayat, David, Hodgkinson, Kathy A., Ginsburg, Ophira, Dimmick, James, Watters, Gordon V.

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Syndrome of mental retardation and distal arthrogryposis in sibs von Chitayat, David, Hodgkinson, Kathy A., Blaichman, Shirley, Chen, Moy-Fong, Watters, Gordon V., Khalife, Samir, Hall, Judith G.

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New Syndrome? Robin sequence with facial and digital anomalies in two half-brothers by the same mother von Chitayat, David, Meunier, Catherine M., Hodgkinson, Kathy A., Azouz, Michel E.

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A randomized controlled trial comparing right and left lateral decubitus starting position on outcomes in colonoscopy von Greene, Alison, Borgoankar, Mark, Hodgkinson, Kathy, Garland, Chantae, Bacque, Lisa, Pace, David

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The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus von Milting, Hendrik, Klauke, Bärbel, Christensen, Alex Hoerby, Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, Šarić, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjærulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P, Connors, Sean, Hodgkinson, Kathy, Young, Terry-L, van der Zwaag, Paul A, van Tintelen, J Peter, Anselmetti, Dario

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Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses von 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

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Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy von Etchegary, Holly, Enright, Glenn, Audas, Rick, Pullman, Daryl, Young, Terry-Lynn, Hodgkinson, Kathy

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Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a fou... von Tung, Matthew, Van Petegem, Filip, Lauson, Samantha, Collier, Ashley, Hodgkinson, Kathy, Fernandez, Bridget, Connors, Sean, Leather, Rick, Sanatani, Shubhayan, Arbour, Laura

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