| Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis AE Chudley, J Conry, JL Cook, C Loock, T Rosales, N LeBlanc Cmaj 172 (5 suppl), S1-S21, 2005 | 1276 | 2005 |
| Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy H Niimura, LL Bachinski, S Sangwatanaroj, H Watkins, AE Chudley, ... New England Journal of Medicine 338 (18), 1248-1257, 1998 | 956 | 1998 |
| Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan JL Cook, CR Green, CM Lilley, SM Anderson, ME Baldwin, AE Chudley, ... Cmaj 188 (3), 191-197, 2016 | 593 | 2016 |
| Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers CM Greco, RJ Hagerman, F Tassone, AE Chudley, MR Del Bigio, ... Brain 125 (8), 1760-1771, 2002 | 580 | 2002 |
| Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis S Popova, S Lange, K Shield, A Mihic, AE Chudley, RAS Mukherjee, ... The Lancet 387 (10022), 978-987, 2016 | 578 | 2016 |
| Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality BM Kamath, NB Spinner, KM Emerick, AE Chudley, C Booth, DA Piccoli, ... Circulation 109 (11), 1354-1358, 2004 | 378 | 2004 |
| Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ... Nature genetics 39 (8), 1018-1024, 2007 | 265 | 2007 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 249 | 2015 |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ... Science translational medicine 2 (49), 49ra68-49ra68, 2010 | 248 | 2010 |
| Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification KM Boycott, S Flavelle, A Bureau, HC Glass, TM Fujiwara, E Wirrell, ... The American Journal of Human Genetics 77 (3), 477-483, 2005 | 236 | 2005 |
| TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 226 | 2011 |
| Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8 KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ... The American Journal of Human Genetics 97 (6), 886-893, 2015 | 208 | 2015 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 196 | 2012 |
| Kabuki syndrome: international consensus diagnostic criteria MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ... Journal of medical genetics 56 (2), 89-95, 2019 | 191 | 2019 |
| Fetal alcohol spectrum disorder G Koren, I Nulman, AE Chudley, C Loocke Cmaj 169 (11), 1181-1185, 2003 | 191 | 2003 |
| Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome KA Lugenbeel, AM Peier, NL Carson, AE Chudley, DL Nelson Nature genetics 10 (4), 483-485, 1995 | 178 | 1995 |
| Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds JC Haworth, FA Booth, AE Chudley, GW Degroot, LA Dilling, SI Goodman, ... The Journal of pediatrics 118 (1), 52-58, 1991 | 175 | 1991 |
| DNA methylation signature of human fetal alcohol spectrum disorder E Portales-Casamar, AA Lussier, MJ Jones, JL MacIsaac, RD Edgar, ... Epigenetics & chromatin 9, 1-20, 2016 | 165 | 2016 |
| Fragile X syndrome AE Chudley, RJ Hagerman The Journal of pediatrics 110 (6), 821-831, 1987 | 159 | 1987 |
| Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study CM Phelan, J Iqbal, HT Lynch, J Lubinski, J Gronwald, P Moller, ... British journal of cancer 110 (2), 530-534, 2014 | 156 | 2014 |
A Micheil InnesUniversity of Calgaryכתובת אימייל מאומתת בדומיין albertahealthservices.ca
