Francois P. Bernier
Francois P. Bernier
Head, Department of Medical Genetics, University of Calgary
Verified email at ucalgary.ca
Title
Cited by
Cited by
Year
Diagnostic criteria for respiratory chain disorders in adults and children
FP Bernier, A Boneh, X Dennett, CW Chow, MA Cleary, DR Thorburn
Neurology 59 (9), 1406-1411, 2002
5422002
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
KN Alagramam, H Yuan, MH Kuehn, CL Murcia, S Wayne, ...
Human molecular genetics 10 (16), 1709-1718, 2001
3112001
Microduplication and triplication of 22q11. 2: a highly variable syndrome
TM Yobb, MJ Somerville, L Willatt, HV Firth, K Harrison, J MacKenzie, ...
The American Journal of Human Genetics 76 (5), 865-876, 2005
2612005
Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms
ES Regalado, D Guo, C Villamizar, N Avidan, D Gilchrist, B McGillivray, ...
Circulation research 109 (6), 680-686, 2011
2502011
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
2492016
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
KM Davey, JS Parboosingh, DR McLeod, A Chan, R Casey, P Ferreira, ...
Journal of Medical Genetics 43 (5), 385-393, 2006
2302006
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ...
The American Journal of Human Genetics 94 (6), 809-817, 2014
2012014
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
1732011
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ...
The American Journal of Human Genetics 90 (5), 925-933, 2012
1522012
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
1352015
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
1222015
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in …
C Dobson-Stone, RD Cox, L Lonie, L Southam, M Fraser, C Wise, ...
European Journal of Human Genetics 8 (1), 24-32, 2000
1222000
The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methods
BJ Kaplan, GF Giesbrecht, BMY Leung, CJ Field, D Dewey, RC Bell, ...
Maternal & child nutrition 10 (1), 44-60, 2014
1122014
The changing prevalence of autism in three regions of Canada
H Ouellette-Kuntz, H Coo, M Lam, MM Breitenbach, PE Hennessey, ...
Journal of autism and developmental disorders 44 (1), 120-136, 2014
1082014
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ...
The Journal of clinical investigation 127 (3), 912-928, 2017
912017
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome
LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ...
Nature genetics 45 (5), 556-562, 2013
812013
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency
R Buchert, H Tawamie, C Smith, S Uebe, AM Innes, B Al Hallak, AB Ekici, ...
The American Journal of Human Genetics 95 (5), 602-610, 2014
802014
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability
N Bögershausen, N Shahrzad, JX Chong, JC von Kleist-Retzow, ...
The American Journal of Human Genetics 93 (1), 181-190, 2013
792013
Validation of an obstetric comorbidity index in an external population
A Metcalfe, LM Lix, JA Johnson, G Currie, AW Lyon, F Bernier, SC Tough
BJOG: An International Journal of Obstetrics & Gynaecology 122 (13), 1748-1755, 2015
702015
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy
KA Aldinger, SJ Mosca, M Tétreault, JC Dempsey, GE Ishak, T Hartley, ...
The American Journal of Human Genetics 95 (2), 227-234, 2014
632014
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