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Patrick Frosk

5PUBLICATIONS

34CO-AUTHORS

Photonics, optoelectronics and optical communicationsNeurogeneticsGene mappingNeurology and neuromuscular diseases

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Publications (5)

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|Nov 10, 2023

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

Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie

|May 08, 2021

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna

|Feb 19, 2021

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

Sandra Whalen, Marie Shaw, Cyril Mignot

|Dec 18, 2018

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Jessica N Hartley, Louise R Simard, Valentina Ly

|Mar 08, 2017

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Patrick Frosk, Heleen H Arts, Julien Philippe

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Frequent Collaborators

2 joint publications

Jessica N Hartley

2 joint publications

A Micheil Innes

1 joint publications

Louise R Simard

1 joint publications

Marc R Del Bigio

1 joint publications

Sandra Whalen

1 joint publications

Frances Elmslie

1 joint publications

Alessandro Mauro Spinelli

1 joint publications

Manoëlle Kossorotoff

1 joint publications

Elise Brischoux-Boucher

1 joint publications

Carroll Jennifer

Frequent Collaborators

2 joint publications

Jessica N Hartley

2 joint publications

A Micheil Innes

1 joint publications

Louise R Simard

1 joint publications

Marc R Del Bigio

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