Huntington disease GP Bates, R Dorsey, JF Gusella, MR Hayden, C Kay, BR Leavitt, M Nance, ... Nature reviews Disease primers 1 (1), 1-21, 2015 | 1628 | 2015 |
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 | 180 | 2019 |
Curation of the mammalian palmitoylome indicates a pivotal role for palmitoylation in diseases and disorders of the nervous system and cancers SS Sanders, DDO Martin, SL Butland, M Lavallée-Adam, D Calzolari, ... PLoS computational biology 11 (8), e1004405, 2015 | 159 | 2015 |
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 | 147 | 2015 |
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 | 117 | 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 | 116 | 2016 |
An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes AL Southwell, A Smith-Dijak, C Kay, M Sepers, EB Villanueva, ... Human molecular genetics 25 (17), 3654-3675, 2016 | 113 | 2016 |
Drosophila Muller F Elements Maintain a Distinct Set of Genomic Properties Over 40 Million Years of Evolution W Leung, CD Shaffer, LK Reed, ST Smith, W Barshop, W Dirkes, ... G3: Genes, Genomes, Genetics 5 (5), 719-740, 2015 | 107 | 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 | 100 | 2013 |
Epidemiology of Huntington disease C Kay, MR Hayden, BR Leavitt Handbook of clinical neurology 144, 31-46, 2017 | 82 | 2017 |
Personalized gene silencing therapeutics for Huntington disease C Kay, NH Skotte, AL Southwell, MR Hayden Clinical genetics 86 (1), 29-36, 2014 | 79 | 2014 |
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 | 77 | 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 | 76 | 2018 |
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 | 57 | 2013 |
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range HF Black, GEB Wright, JA Collins, N Caron, C Kay, Q Xia, L Arning, ... Genetics in Medicine 22 (12), 2108-2113, 2020 | 47 | 2020 |
A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles AL Southwell, NH Skotte, EB Villanueva, ME Østergaard, X Gu, ... Human Molecular Genetics 26 (6), 1115-1132, 2017 | 40 | 2017 |
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease DDO Martin, C Kay, JA Collins, YT Nguyen, RA Slama, MR Hayden Scientific Reports 8 (1), 8096, 2018 | 38 | 2018 |
A comprehensive haplotype-targeting strategy for allele-specific HTT suppression in Huntington disease C Kay, JA Collins, NS Caron, L de Andrade Agostinho, H Findlay-Black, ... The American Journal of Human Genetics 105 (6), 1112-1125, 2019 | 33 | 2019 |
A new mutation for Huntington disease following maternal transmission of an intermediate allele A Semaka, C Kay, RDM Belfroid, EK Bijlsma, M Losekoot, IM van Langen, ... European journal of medical genetics 58 (1), 28-30, 2015 | 24 | 2015 |
The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America C Kay, I Tirado-Hurtado, M Cornejo-Olivas, JA Collins, G Wright, ... European Journal of Human Genetics 25 (3), 332-340, 2017 | 23 | 2017 |