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 | 231 | 2005 |
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 | 222 | 2015 |
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 | 129 | 2011 |
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 | 101 | 2018 |
Debating clinical utility W Burke, AM Laberge, N Press Public health genomics 13 (4), 215-223, 2010 | 82 | 2010 |
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 | 71 | 2015 |
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 | 69 | 2016 |
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 | 64 | 2018 |
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 | 52 | 2015 |
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 | 51 | 2016 |
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 | 47 | 2019 |
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 | 45 | 2019 |
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 | 43 | 2016 |
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 | 38 | 2020 |
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 | 37 | 2014 |
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 | 36 | 2015 |
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 | 36 | 2005 |
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 | 32 | 2019 |
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 | 32 | 2015 |
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 | 30 | 2009 |