Lesley Ann Turner
Lesley Ann Turner
Memorial University of Newfoundland
Verified email at easternhealth.ca
Title
Cited by
Cited by
Year
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
2542009
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
872011
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
802012
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
312009
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
252014
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
182008
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
182007
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
122014
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
82015
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
82009
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
52014
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
22014
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
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
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
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
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
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
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, ...
INVITED COMMENT
EG Neilan, E McPherson, L Turner, I Zador, K Reynolds, D Macgregor, ...
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