|Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene|
ND Merner, KA Hodgkinson, AFM Haywood, S Connors, VM French, ...
The American Journal of Human Genetics 82 (4), 809-821, 2008
|Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease|
K Cryns, TA Sivakumaran, JMW Van den Ouweland, RJE Pennings, ...
Human mutation 22 (4), 275-287, 2003
|Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1|
TL Young, E Ives, E Lynch, R Person, S Snook, L MacLaren, T Cator, ...
Human molecular genetics 10 (22), 2509-2514, 2001
|A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.|
TL Young, L Penney, MO Woods, PS Parfrey, JS Green, D Hefferton, ...
American journal of human genetics 64 (3), 900, 1999
|Genetic heterogeneity of Bardet–Biedl syndrome in a distinct Canadian population: evidence for a fifth locus|
MO Woods, TL Young, PS Parfrey, D Hefferton, JS Green, WS Davidson
Genomics 55 (1), 2-9, 1999
|Canadian Bardet‐Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype|
TL Young, MO Woods, PS Parfrey, JS Green, E O'Leary, D Hefferton, ...
American journal of medical genetics 78 (5), 461-467, 1998
|A founder effect in the Newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM|
TL Young, MO Woods, PS Parfrey, JS Green, D Hefferton, WS Davidson
The American Journal of Human Genetics 65 (6), 1680-1687, 1999
|The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p. S358L mutation in TMEM43|
KA Hodgkinson, SP Connors, N Merner, A Haywood, TL Young, ...
Clinical genetics 83 (4), 321-331, 2013
|A preliminary analysis of the DNA and diet of the extinct Beothuk: A systematic approach to ancient human DNA|
M Kuch, DR Gröcke, MC Knyf, MTP Gilbert, B Younghusband, T Young, ...
American Journal of Physical Anthropology: The Official Publication of the …, 2007
|Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan|
ZM Ahmed, XC Li, SD Powell, S Riazuddin, TL Young, K Ramzan, ...
BMC medical genetics 5 (1), 24, 2004
|A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly|
L Doucette, J Green, B Fernandez, GJ Johnson, P Parfrey, TL Young
European Journal of Human Genetics 19 (3), 293, 2011
|Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada|
AFM Haywood, ND Merner, KA Hodgkinson, J Houston, P Syrris, V Booth, ...
European heart journal 34 (13), 1002-1011, 2012
|The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus|
H Milting, B Klauke, AH Christensen, J Müsebeck, V Walhorn, ...
European heart journal 36 (14), 872-881, 2014
|Using next‐generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities|
KA Schrader, A Heravi‐Moussavi, PJ Waters, J Senz, J Whelan, G Ha, ...
The Journal of pathology 225 (1), 12-18, 2011
|Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A|
K Mahoney, SJ Moore, D Buckley, M Alam, P Parfrey, S Penney, N Merner, ...
Seizure 18 (7), 492-497, 2009
|Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15|
L Doucette, ND Merner, S Cooke, E Ives, D Galutira, V Walsh, T Walsh, ...
European journal of human genetics 17 (5), 554, 2009
|Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families|
RC Green, SA Narod, J Morasse, TL Young, J Cox, GWN Fitzgerald, ...
American journal of human genetics 54 (6), 1067, 1994
|Autosomal recessive Bardet–Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders|
MP Webb, EL Dicks, JS Green, SJ Moore, GM Warden, JS Gamberg, ...
Kidney international 76 (2), 215-223, 2009
|Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable …|
KA Hodgkinson, AJ Howes, P Boland, XS Shen, S Stuckless, TL Young, ...
Circulation: Arrhythmia and Electrophysiology 9 (3), e003589, 2016
|Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America|
L Doucette, J Green, C Black, J Schwartzentruber, GJ Johnson, D Galutira, ...
Ophthalmic genetics 34 (3), 119-129, 2013