Patrick Frosk

Assistant Professor

University of Manitoba

Canada

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Dr. Patrick Frosk is an Assistant Professor at the University of Manitoba, Canada. His research focuses on molecular characterization and genetic disorders, with recent articles discussing PIK3CA-related overgrowth spectrum, BCAP31-linked intellectual disability, and the Canadian Rare Diseases Models and Mechanisms Network. Dr. Frosk's work aims to enhance understanding of under-studied genetic conditions and their implications in human health.

Articles (5)

Year:

2024

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Collaborators (4)

Howard Lipshitz

Professor

University of Toronto Faculty of Medicine

CANADA

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Francois Bernier

Head and Professor

University of Calgary

CANADA

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Christopher McMaster

Professor

Dalhousie University

CANADA

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Jessica N. Hartley

CANADA

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Patrick Frosk

Research Interests

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Articles (5)

Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Acquired Microcephaly in a Patient with <i>HECW2</i> Mutation.

Collaborators (4)

Howard Lipshitz

Francois Bernier

Christopher McMaster

Jessica N. Hartley

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