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Anne-Marie Laberge
Anne-Marie Laberge
CHU Sainte-Justine
在 ssss.gouv.qc.ca 的电子邮件经过验证
标题
引用次数
引用次数
年份
Population history and its impact on medical genetics in Quebec
AM Laberge, J Michaud, A Richter, E Lemyre, M Lambert, B Brais, ...
Clinical genetics 68 (4), 287-301, 2005
2312005
The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
Journal of Medical Genetics 52 (7), 431-437, 2015
2222015
Genetics in health care: an overview of current and emerging models
RN Battista, I Blancquaert, AM Laberge, N Van Schendel, N Leduc
Public health genomics 15 (1), 34-45, 2011
1292011
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
D Lessel, C Gehbauer, NC Bramswig, C Schluth-Bolard, ...
Brain 141 (8), 2299-2311, 2018
1012018
Debating clinical utility
W Burke, AM Laberge, N Press
Public health genomics 13 (4), 215-223, 2010
822010
Joubert syndrome in French Canadians and identification of mutations in CEP104
M Srour, FF Hamdan, D McKnight, E Davis, H Mandel, J Schwartzentruber, ...
The American Journal of Human Genetics 97 (5), 744-753, 2015
712015
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
S Siddiq, BJ Wilson, ID Graham, M Lamoureux, SD Khangura, K Tingley, ...
Orphanet journal of rare diseases 11, 1-10, 2016
692016
Points to consider for laboratories reporting results from diagnostic genomic sequencing
DF Vears, K Sénécal, AJ Clarke, L Jackson, AM Laberge, L Lovrecic, ...
European journal of human genetics 26 (1), 36-43, 2018
642018
Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of …
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
J Med Genet 52 (7), 431-437, 2015
522015
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups
SD Khangura, K Tingley, P Chakraborty, D Coyle, JB Kronick, ...
Journal of Inherited Metabolic Disease 39, 139-147, 2016
512016
The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access
S Birko, V Ravitsky, C Dupras, J Le Clerc-Blain, ME Lemoine, AO Affdal, ...
BMC pregnancy and childbirth 19, 1-11, 2019
472019
Obesity class versus the Edmonton Obesity Staging System for Pediatrics to define health risk in childhood obesity: results from the CANPWR cross-sectional study
S Hadjiyannakis, Q Ibrahim, J Li, GDC Ball, A Buchholz, JK Hamilton, ...
The Lancet Child & Adolescent Health 3 (6), 398-407, 2019
452019
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
MD Karaceper, P Chakraborty, D Coyle, K Wilson, JB Kronick, S Hawken, ...
Orphanet journal of rare diseases 11, 1-9, 2016
432016
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia
J Richer, HL Hill, Y Wang, ML Yang, KL Hunker, J Lane, S Blackburn, ...
Arteriosclerosis, thrombosis, and vascular biology 40 (11), 2686-2699, 2020
382020
Cost effectiveness of newborn screening for cystic fibrosis: A simulation study
L Nshimyumukiza, A Bois, P Daigneault, L Lands, AM Laberge, ...
Journal of Cystic Fibrosis 13 (3), 267-274, 2014
372014
Normal cerebrospinal fluid pyridoxal 5′-phosphate level in a PNPO-deficient patient with neonatal-onset epileptic encephalopathy
A Levtova, S Camuzeaux, AM Laberge, P Allard, C Brunel-Guitton, ...
JIMD Reports, Volume 22, 67-75, 2015
362015
A “Fille du Roy” introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians
AM Laberge, M Jomphe, L Houde, H Vézina, M Tremblay, B Desjardins, ...
The American Journal of Human Genetics 77 (2), 313-317, 2005
362005
Canadian pregnant women's preferences regarding NIPT for Down syndrome: the information they want, how they want to get it, and with whom they want to discuss it
AM Laberge, S Birko, MÈ Lemoine, J Le Clerc-Blain, H Haidar, AO Affdal, ...
Journal of Obstetrics and Gynaecology Canada 41 (6), 782-791, 2019
322019
Scoping review of patient-and family-oriented outcomes and measures for chronic pediatric disease
SD Khangura, MD Karaceper, Y Trakadis, JJ Mitchell, P Chakraborty, ...
BMC pediatrics 15, 1-9, 2015
322015
Long-term outcomes of the" Genetics in Primary Care" faculty development initiative.
AM Laberge, K Fryer-Edwards, P Kyler, MA Lloyd-Puryear, W Burke
Family medicine 41 (4), 266-270, 2009
302009
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