Author

Bernier F

Professor, Department of Medical Genetics, University of Calgary - Cited by 6,539 - Clinical Genetics - Genomics

Biography

Bernier F is currently working at the Department of Medicine, Centre Hospitalier Universitaire de Sherbrooke, which is located in Sherbrooke, Canada and his area of specialization is in Pharmaceutical Science.
Title
Cited by
Year
The developmental-genetics of canalization
B Hallgrimsson, RM Green, DC Katz, JL Fish, FP Bernier, CC Roseman, ...Seminars in cell & developmental biology 88, 67-79, 2019201
68
2019
Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: study protocol
KO Yeates, M Beauchamp, W Craig, Q Doan, R Zemek, BH Bjornson, ...BMJ open 7 (7), e017012, 2017201
56
2017
Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families
T Hartley, JD Wagner, J Warman‐Chardon, M Tétreault, L Brady, S Baker, ...Clinical genetics 93 (2), 301-309, 2018201
52
2018
Automated syndrome diagnosis by three-dimensional facial imaging
B Hallgrímsson, JD Aponte, DC Katz, JJ Bannister, SL Riccardi, ...Genetics in medicine 22 (10), 1682-1693, 2020202
45
2020
Maternal exposure to arsenic and mercury in small-scale gold mining areas of Northern Tanzania
EC Nyanza, FP Bernier, M Manyama, J Hatfield, JW Martin, D DeweyEnvironmental research 173, 432-442, 2019201
35
2019
Maternal exposure to arsenic and mercury and associated risk of adverse birth outcomes in small-scale gold mining communities in Northern Tanzania
EC Nyanza, D Dewey, M Manyama, JW Martin, J Hatfield, FP BernierEnvironment international 137, 105450, 2020202
34
2020
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
T Zhao, CM Goedhart, PN Sam, R Sabouny, S Lingrell, AJ Cornish, ...Life science alliance 2 (2), 2019201
34
2019
The value of diagnostic testing for parents of children with rare genetic diseases
DA Marshall, KV MacDonald, S Heidenreich, T Hartley, FP Bernier, ...Genetics in Medicine 21 (12), 2798-2806, 2019201
31
2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
S Donkervoort, R Sabouny, P Yun, L Gauquelin, KR Chao, Y Hu, ...Acta neuropathologica 138, 1013-1031, 2019201
30
2019
Effects of prenatal exposure and co-exposure to metallic or metalloid elements on early infant neurodevelopmental outcomes in areas with small-scale gold mining activities in …
EC Nyanza, FP Bernier, JW Martin, M Manyama, J Hatfield, D DeweyEnvironment International 149, 106104, 2021202
25
2021
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
T van Dijk, S Ferdinandusse, JPN Ruiter, M Alders, IB Mathijssen, ...European Journal of Human Genetics 26 (12), 1752-1758, 2018201
25
2018
Validation of dried blood spots for maternal biomonitoring of nonessential elements in an artisanal and small‐scale gold mining area of Tanzania
EC Nyanza, D Dewey, F Bernier, M Manyama, J Hatfield, JW MartinEnvironmental toxicology and chemistry 38 (6), 1285-1293, 2019201
21
2019
Fully automatic landmarking of syndromic 3D facial surface scans using 2D images
JJ Bannister, SR Crites, JD Aponte, DC Katz, M Wilms, OD Klein, ...Sensors 20 (11), 3171, 2020202
19
2020
(Un) standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada
C Michaels-Igbokwe, B McInnes, KV MacDonald, GR Currie, F Omar, ...Genetics in Medicine 23 (2), 272-279, 2021202
15
2021
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders
A Eaton, FP Bernier, C Goedhart, O Caluseriu, RE Lamont, KM Boycott, ...American Journal of Medical Genetics Part A 176 (), 2487-2493, 2018201
11
2018
Enabling global clinical collaborations on identifiable patient data: the Minerva Initiative
C Nellåker, FS Alkuraya, G Baynam, RA Bernier, FPJ Bernier, ...Frontiers in genetics , 611, 2019201
10
2019
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada
M Osmond, T Hartley, DA Dyment, KD Kernohan, M Brudno, OJ Buske, ...Genetics in Medicine 24 (1), 0-8, 2022202
10
2022
De novo variants in MPP5 cause global developmental delay and behavioral changes
N Sterling, AR Duncan, R Park, DA Koolen, J Shi, SH Cho, PJ Benke, ...Human Molecular Genetics 2 (20), 3388-3401, 2020202
9
2020
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
KM Boycott, T Hartley, KD Kernohan, DA Dyment, H Howley, AM Innes, ...The American Journal of Human Genetics 109 (11), 1947-1959, 2022202
8
2022
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns‐like phenotype
KM Bone, JE Chernos, R Perrier, AM Innes, FP Bernier, R McLeod, ...Prenatal Diagnosis 37 (), 02-10, 2017201
6
2017

Referred From: https://scholar.google.ca/citations?user=xEgDK88AAAAJ&hl=en

Cited by
Citations 6539
h-index 39
i10-index 78
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