Patrick Frosk


Working Group Member

Associate Professor, Pediatrics and Child Health, Biochemistry, and Medical Genetics, Director of Medical Genetics and Genomic Residency Program, University of Manitoba

Clinical Geneticist, Investigator, Children's Hospital Research Institute of Manitoba

NMD4C Working Group(s): Clinical Curriculum Development

Research Interests: Rare monogenic disease, Genetic mapping / gene identification in founder populations, Genomics

ORCiD profile


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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