Francois P Bernier

Francois P Bernier

University of Calgary - Calgary / Canada
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 646601
person_outline Francois P Bernier's MOST POPULAR ARTICLES
1-) Diagnostic criteria for respiratory chain disorders in adults and children Neurology 59 (9), 1406-1411, 2002
2-) Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Clinical genetics 89 (3), 275-284, 2016
3-) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F Human molecular genetics 10 (16), 1709-1718, 2001
4-) Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms Circulation research 109 (6), 680-686, 2011
5-) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition Journal of medical genetics 43 (5), 385-393, 2006