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Francois P. Bernier
Francois P. Bernier
Professor, Department of Medical Genetics, University of Calgary
Geverifieerd e-mailadres voor ucalgary.ca
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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
6822002
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
4182016
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
3412001
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
3172011
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
2862006
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
2782014
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
2742005
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
2462015
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
2262011
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
2252012
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
2182015
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
1932017
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
1832014
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, 120-136, 2014
1502014
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
1362015
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
1352000
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
1252014
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
1252013
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
1152013
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ...
Clinical genetics 92 (3), 281-289, 2017
1082017
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