Terry-Lynn Young
Terry-Lynn Young
Professor
Verified email at mun.ca - Homepage
TitleCited byYear
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
3852008
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
1682003
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
1622001
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
1371999
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
791999
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
551998
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
471999
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
462013
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
432007
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
402004
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
332011
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
312012
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
302014
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
302011
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
292009
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
282009
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
271994
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
192009
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
182016
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
172013
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