|Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11. 2 in individuals ascertained for diagnosis of autism spectrum disorder.|
BA Fernandez, W Roberts, B Chung, R Weksberg, S Meyn, P Szatmari, ...
Journal of medical genetics, 2009
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|A40: Periodic Fever Syndromes in Canada: Results from a National Surveillance Program|
P Dancey, S Benseler, M Gattorno, AK Junker, RM Laxer, P Miettunen, ...
Arthritis & Rheumatology 66 (S3), S60-S60, 2014
|Parent attitudes to newborn screening consent practices|
SG Nicholls, BJ Wilson, JC Brehaut, H Etchegary, BK Potter, RZ Hayeems, ...
Clinical Biochemistry 15 (47), 133-134, 2014
|Building a pan-Canadian practice-based research network for inherited metabolic diseases: The first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)|
BK Potter, P Chakraborty, D Coyle, JB Kronick, K Wilson, M Brownell, ...
Clinical Biochemistry 15 (47), 137-138, 2014
|A REDCap database to support longitudinal follow-up of pediatric patients with inborn errors of metabolism|
M Hernandez, P Chakraborty, JB Kronick, BK Potter, AKJ Chan, D Coyle, ...
Clinical Biochemistry 15 (47), 138, 2014
|Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada|
JB Kronick, M Hernandez, K Tingley, BK Potter, AKJ Chan, D Coyle, ...
Clinical Biochemistry 15 (47), 152, 2014
|Microdeletion of 18q21. 31 Encompassing the MC4R Gene Presenting with Obesity and Developmental Delay|
L Turner, A Gregory, L Twells, DM Gregory, D Stavropoulos
Canadian journal of diabetes, S284, 2013
|Universal understanding? Stakeholder interpretations of consent terminology in the context of newborn bloodspot screening|
SG Nicholls, H Etchegary, L Tessier, C Simmonds, BK Potter, JC Brehaut, ...
EG Neilan, E McPherson, L Turner, I Zador, K Reynolds, D Macgregor, ...