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| The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene P Reilich, R Horvath, S Krause, N Schramm, DM Turnbull, M Trenell, ... Journal of neurology 258 (11), 1987-1997, 2011 | 115 | 2011 |
| Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome J Gillis, E Burashnikov, C Antzelevitch, S Blaser, G Gross, L Turner, ... American Journal of Medical Genetics Part A 158 (1), 182-187, 2012 | 110 | 2012 |
| Mutations in TOP3A cause a Bloom syndrome-like disorder CA Martin, CV Logan, RS Thakur, DA Parry, AH Bizard, A Leitch, L Cleal, ... The American Journal of Human Genetics 103 (2), 221-231, 2018 | 80 | 2018 |
| Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes M Uddin, M Woodbury-Smith, A Chan, L Brunga, S Lamoureux, ... Neurology Genetics 3 (6), 2017 | 54 | 2017 |
| Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett, ... Human molecular genetics 23 (24), 6432-6440, 2014 | 53 | 2014 |
| Mutation update for the SATB2 gene YA Zarate, KA Bosanko, AR Caffrey, JA Bernstein, DM Martin, ... Human mutation 40 (8), 1013-1029, 2019 | 47 | 2019 |
| Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation E McPherson, L Turner, I Zador, K Reynolds, D Macgregor, PF Giampietro American Journal of Medical Genetics Part A 149 (4), 567-572, 2009 | 46 | 2009 |
| Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice H Etchegary, SG Nicholls, L Tessier, C Simmonds, BK Potter, JC Brehaut, ... European Journal of Human Genetics 24 (11), 1530-1534, 2016 | 40 | 2016 |
| Benefits and burdens of newborn screening: public understanding and decision-making SG Nicholls, BJ Wilson, H Etchegary, JC Brehaut, BK Potter, R Hayeems, ... Personalized Medicine 11 (6), 593-607, 2014 | 25 | 2014 |
| A 5‐Mb microdeletion at 6q16. 1‐q16. 3 with SIM gene deletion and obesity JC Wang, L Turner, B Lomax, P Eydoux American Journal of Medical Genetics Part A 146 (22), 2975-2978, 2008 | 25 | 2008 |
| Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy MG Otero, E Tiongson, F Diaz, K Haude, K Panzer, A Collier, J Kim, ... Annals of clinical and translational neurology 6 (1), 154-160, 2019 | 23 | 2019 |
| Collagen expression in fibroblasts with a novel LMNA mutation D Nguyen, DF Leistritz, L Turner, D MacGregor, K Ohson, P Dancey, ... Biochemical and biophysical research communications 352 (3), 603-608, 2007 | 21 | 2007 |
| Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian … K Tingley, M Lamoureux, M Pugliese, MT Geraghty, JB Kronick, BK Potter, ... Orphanet Journal of Rare Diseases 15, 1-12, 2020 | 14 | 2020 |
| Deletion of the MC4R Gene in a 9-Year-Old Obese Boy L Turner, A Gregory, L Twells, D Gregory, DJ Stavropoulos Childhood Obesity 11 (2), 219-223, 2015 | 11 | 2015 |
| Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients JC Wang, L Dang, B Lomax, L Turner, M Shago, AS Teebi, R Klatt, ... American Journal of Medical Genetics Part A 149 (3), 372-379, 2009 | 8 | 2009 |
| Stakeholder attitudes towards the role and application of informed consent for newborn bloodspot screening: a study protocol SG Nicholls, L Tessier, H Etchegary, JC Brehaut, BK Potter, RZ Hayeems, ... BMJ open 4 (11), e006782, 2014 | 7 | 2014 |
| Single‐nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene H Sasai, Y Aoyama, H Otsuka, E Abdelkreem, M Nakama, T Hori, ... Molecular Genetics & Genomic Medicine 5 (2), 177-184, 2017 | 6 | 2017 |
| Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada MF Lamoureux, K Tingley, JB Kronick, BK Potter, AKJ Chan, D Coyle, ... Springer Berlin Heidelberg, 2014 | 6 | 2014 |
| What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening SG Nicholls, H Etchegary, L Tessier, C Simmonds, BK Potter, JC Brehaut, ... Public Health Ethics 12 (2), 158-175, 2019 | 4 | 2019 |
