|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Genetic variation in healthy oldest-old|
J Halaschek-Wiener, M Amirabbasi-Beik, N Monfared, M Pieczyk, C Sailer, ...
PLoS One 4 (8), e6641, 2009
|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
|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
|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
|Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol|
CL Wellington, YZ Yang, S Zhou, SM Clee, B Tan, K Hirano, K Zwarts, ...
Journal of lipid research 43 (11), 1939-1949, 2002
|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