| Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency A Brooks-Wilson, M Marcil, SM Clee, LH Zhang, K Roomp, M van Dam, ... Nature genetics 22 (4), 336-345, 1999 | 2126 | 1999 |
| Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux M Marcil, A Brooks-Wilson, SM Clee, K Roomp, LH Zhang, L Yu, ... The Lancet 354 (9187), 1341-1346, 1999 | 420 | 1999 |
| Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes SM Clee, JJP Kastelein, M van Dam, M Marcil, K Roomp, KY Zwarts, ... The Journal of clinical investigation 106 (10), 1263-1270, 2000 | 393 | 2000 |
| CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup SC Warby, A Montpetit, AR Hayden, JB Carroll, SL Butland, H Visscher, ... The American Journal of Human Genetics 84 (3), 351-366, 2009 | 296 | 2009 |
| HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia SC Warby, H Visscher, JA Collins, CN Doty, C Carter, SL Butland, ... European Journal of Human Genetics 19 (5), 561-566, 2011 | 204 | 2011 |
| Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ... The American Journal of Human Genetics 104 (6), 1116-1126, 2019 | 166 | 2019 |
| A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease K Bečanović, A Nørremølle, SJ Neal, C Kay, JA Collins, D Arenillas, T Lilja, ... Nature neuroscience 18 (6), 807-816, 2015 | 140 | 2015 |
| A fully humanized transgenic mouse model of Huntington disease AL Southwell, SC Warby, JB Carroll, CN Doty, NH Skotte, W Zhang, ... Human molecular genetics 22 (1), 18-34, 2013 | 123 | 2013 |
| Huntingtin haplotypes provide prioritized target panels for allele-specific silencing in Huntington disease patients of European ancestry C Kay, JA Collins, NH Skotte, AL Southwell, SC Warby, NS Caron, ... Molecular Therapy 23 (11), 1759-1771, 2015 | 113 | 2015 |
| Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression AL Southwell, SEP Smith, TR Davis, NS Caron, EB Villanueva, Y Xie, ... Scientific reports 5 (1), 1-11, 2015 | 110 | 2015 |
| Huntington disease reduced penetrance alleles occur at high frequency in the general population C Kay, JA Collins, Z Miedzybrodzka, SJ Madore, ES Gordon, N Gerry, ... Neurology 87 (3), 282-288, 2016 | 108 | 2016 |
| CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease A Semaka, C Kay, C Doty, JA Collins, EK Bijlsma, F Richards, ... Journal of medical genetics 50 (10), 696-703, 2013 | 95 | 2013 |
| The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease SM Clee, O Loubser, J Collins, JJP Kastelein, MR Hayden Clinical genetics 60 (4), 293-300, 2001 | 90 | 2001 |
| Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles) A Semaka, JA Collins, MR Hayden American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 81 | 2010 |
| Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes FK Baine, C Kay, ME Ketelaar, JA Collins, A Semaka, CN Doty, A Krause, ... European Journal of Human Genetics 21 (10), 1120-1127, 2013 | 75 | 2013 |
| Reduced telomere length variation in healthy oldest old J Halaschek-Wiener, I Vulto, D Fornika, J Collins, JM Connors, ND Le, ... Mechanisms of ageing and development 129 (11), 638-641, 2008 | 74 | 2008 |
| The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population C Kay, JA Collins, GEB Wright, F Baine, Z Miedzybrodzka, F Aminkeng, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 73 | 2018 |
| Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies GEB Wright, HF Black, JA Collins, T Gall-Duncan, NS Caron, CE Pearson, ... The Lancet Neurology 19 (11), 930-939, 2020 | 58 | 2020 |
| Genetic variation in healthy oldest-old J Halaschek-Wiener, M Amirabbasi-Beik, N Monfared, M Pieczyk, C Sailer, ... PLoS One 4 (8), e6641, 2009 | 56 | 2009 |
| High frequency of intermediate alleles on huntington disease‐associated haplotypes in British Columbia's general population A Semaka, C Kay, CN Doty, JA Collins, N Tam, MR Hayden American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 55 | 2013 |
Michael HaydenKillam Professor, University of British Columbia在 cmmt.ubc.ca 的电子邮件经过验证
