Patrick Frosk
5PUBLICATIONS
34CO-AUTHORS
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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
