Geneviève Bernard

Medical Genetics

I love working with children and their families because they are very courageous and resilient, and they teach us something every day.

Hospital information

Academic appointments

Associate Professor, McGill University

Education

Medical Degree

Université de Montréal

Residency

McGill University

Fellowship(s)

Université de Montréal (Neurogenetics)

Fun fact about me

I like to run!

Research

Research interests

Leukodystrophies, neurometabolic disorders and movement disorders

Selected publications

Friedman J^, Smith DE^, Issa MY, Stanley V, Wang R, Mendes MI, Wright M, Wigby K, Hildreth A, Crawford J, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, Musaev D, Accogli A, Guerrero K, Tran LT, Ben-Omran T, Salomons GS, Zaki MS, Bernard G^^, Gleeson JG^^. Biallelic mutations in VARS, encoding cytoplasmic valyl-tRNA synthetase, lead to a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 2019 Feb 12;10(1):707 (PMID: 30755602). IF: 12.124

Mendes MI^, Gutierrez Salazar M^, Guerrero K^, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI^^, Bernard G^^. Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a Hypomyelinating Leukodystrophy. Am J Hum Genet 2018, Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22. (PMID: 29576217) IF: 9.025 *

Gauquelin L, Tetreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupre N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018 Jan 1;141(1):e1. Epub 2017 Dec 8. (PMID: 29228109) IF: 10.292 *

La Piana R^, Cayami FK^, Tran LT, Guerrero K, van Spaendonk RML, Õunap K, Pajusalu S, Prokisch H, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C , Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI^^, Bernard G^^. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 2016 Apr 26;86(17):1622-6 (PMID:27029625). IF: 8.286 *

Thiffault I^, Wolf NI^, Forget D^, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates III JR, Coulombe B^^, Bernard G^^ Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Commun. 2015 Jul 7;6:7623 (PMID: 26151409). IF: 11.470