Patrick Frosk
Working Group Member
Associate Professor, University of Manitoba
NMD4C Working Group(s): Clinical Curriculum Development
Research Interests: Rare monogenic disease, Genetic mapping / gene identification in founder populations, Genomics
ORCiD profileBiography
Dr. Frosk is a clinician scientist at the University of Manitoba in Canada, whose clinical practice includes a wide range of general and metabolic genetics with particular focus on neuromuscular and neurodegenerative diseases. Dr. Frosk’s research is directed at identification of novel disease genes and finding ways to better utilize next generation sequencing in clinical practice. In addition to research, Dr. Frosk is heavily involved in post-graduate medical education.
Recent Publications
Sleiman, S, Marshall, AE, Dong, X, Mhanni, A, Alidou-D'Anjou, I, Frosk, P et al.. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Hum Mol Genet. 2022.31 (4)614-624 PMID:34542157
Kour, S, Rajan, DS, Fortuna, TR, Anderson, EN, Ward, C, Lee, Y et al.. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021.12 (1)2558 PMID:33963192
Vavassori, S, Chou, J, Faletti, LE, Haunerdinger, V, Opitz, L, Joset, P et al.. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021.148 (2)381-393 PMID:33872655
Whalen, S, Shaw, M, Mignot, C, Héron, D, Bastaraud, SC, Walti, CC et al.. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021.29 (9)1405-1417 PMID:33603160
Dawson, AJ, Hovanes, K, Liu, J, Marles, S, Greenberg, C, Mhanni, A et al.. Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. Clin Dysmorphol. 2021.30 (2)83-88 PMID:33038106
Peikes, T, O'Carroll, A, Frosk, P, Salman, MS. Acquired Microcephaly in a Patient with HECW2 Mutation. Can J Neurol Sci. 2021.48 (3)435-437 PMID:32814609
Boycott, KM, Campeau, PM, Howley, HE, Pavlidis, P, Rogic, S, Oriel, C et al.. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. Am J Hum Genet. 2020.106 (2)143-152 PMID:32032513
Abdelfatah, N, Chen, R, Duff, HJ, Seifer, CM, Buffo, I, Huculak, C et al.. Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. JACC Basic Transl Sci. 2019.4 (2)204-221 PMID:31061923
Hartley, JN, Simard, LR, Ly, V, Del Bigio, MR, Frosk, P. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. Am J Med Genet A. 2019.179 (2)206-218 PMID:30556349
Lu, HY, Sharma, M, Biggs, CM, Huang, YH, Shopsowitz, KE, Frosk, P et al.. The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant. Pediatr Allergy Immunol. 2018.29 (6)663-668 PMID:29808493
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