| 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 | 593 | 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 | 224 | 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 | 203 | 2001 |
| A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 TL Young, L Penney, MO Woods, PS Parfrey, JS Green, D Hefferton, ... The American Journal of Human Genetics 64 (3), 900-904, 1999 | 154 | 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 | 98 | 2013 |
| 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 | 87 | 1999 |
| 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, 2015 | 79 | 2015 |
| 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 | 65 | 1998 |
| 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, 2013 | 61 | 2013 |
| 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 | 59 | 1999 |
| 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 | 53 | 2016 |
| Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and … ZM Ahmed, X Cindy Li, SD Powell, S Riazuddin, TL Young, K Ramzan, ... BMC Medical Genetics 5, 1-8, 2004 | 50 | 2004 |
| 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 | 48 | 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), 554-564, 2009 | 48 | 2009 |
| 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 | 48 | 2007 |
| 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), 293-299, 2011 | 47 | 2011 |
| 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 | 39 | 2011 |
| 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 | 32 | 2013 |
| 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 | 30 | 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 | 30 | 1994 |
Kathleen Anne HodgkinsonAssociate Professor, Clinical Epidemiology and Genetics, Memorial University在 mun.ca 的电子邮件经过验证
