Publications by authors named "Patrick Frosk"

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Infant With a Severe Form of -Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy.
Elizabeth O Ferreira, Marc R Del Bigio, Jason Morin, Patrick Frosk

Pediatr Dev Pathol· September 2025

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Mainstreaming of clinical genetic testing: A conceptual framework.
Michael P Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu, Linlea Armstrong, Patrick Frosk

Genet Med· August 2025

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Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.
Angela Krutish, Rebekah Kukurudz-Gorowski, Felippe Borlot, Patrick Frosk, Cheryl Rockman-Greenberg

Front Genet· May 2025

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Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells.
Mikaël Boullé, Ambre Leleu, Siham Schacre, Céline Banal, Alix Boucharlat, Patrick Frosk

Stem Cell Res· December 2024

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Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Tom Le Voyer, Majistor Raj Luxman Maglorius Renkilaraj, Kunihiko Moriya, Malena Pérez Lorenzo, Tina Nguyen, Patrick Frosk

Proc Natl Acad Sci U S A· September 2024

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Nicole Zaki, Nicholas J Miller, Patrick Frosk, Aditya Sharma

CMAJ· April 2024

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Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie, Madeline Couse, Taila Hartley, Patrick Frosk

Am J Med Genet A· March 2024

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Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.
Nicole Zaki, Nicholas J Miller, Patrick Frosk, Aditya Sharma

CMAJ· January 2024

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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Tom Le Voyer, Audrey V Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Patrick Frosk

Nature· November 2023

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Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sophie Sleiman, Aren E Marshall, Xiaomin Dong, Aziz Mhanni, Ismaël Alidou-D'Anjou, Patrick Frosk

Hum Mol Genet· February 2022

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Patrick Frosk

Eur J Hum Genet· September 2021

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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Stefano Vavassori, Janet Chou, Laura Eva Faletti, Veronika Haunerdinger, Lennart Opitz, Patrick Frosk

J Allergy Clin Immunol· August 2021

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Acquired Microcephaly in a Patient with Mutation.
Tyler Peikes, Aoife O'Carroll, Patrick Frosk, Michael S Salman

Can J Neurol Sci· May 2021

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Patrick Frosk

Nat Commun· May 2021

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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Angelika J Dawson, Karine Hovanes, Jing Liu, Sandra Marles, Cheryl Greenberg, Patrick Frosk

Clin Dysmorphol· April 2021

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The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Kym M Boycott, Philippe M Campeau, Heather E Howley, Paul Pavlidis, Sanja Rogic, Patrick Frosk

Am J Hum Genet· February 2020

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Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
Nelly Abdelfatah, Ruping Chen, Henry J Duff, Colette M Seifer, Ilan Buffo, Patrick Frosk

JACC Basic Transl Sci· April 2019

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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, Marc R Del Bigio, Patrick Frosk

Am J Med Genet A· February 2019

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The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Henry Y Lu, Mehul Sharma, Catherine M Biggs, Yu-Hsuan Huang, Kevin E Shopsowitz, Patrick Frosk

Pediatr Allergy Immunol· September 2018

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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Patrick Frosk, Heleen H Arts, Julien Philippe, Carter S Gunn, Emma L Brown

J Med Genet· July 2017

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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Gabrielle Wheway, Miriam Schmidts, Dorus A Mans, Katarzyna Szymanska, Thanh-Minh T Nguyen, Patrick Frosk

Nat Cell Biol· August 2015

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A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Patrick Frosk, Bernard Chodirker, Louise Simard, Wael El-Matary, Ana Hanlon-Dearman

BMC Med Genet· April 2015

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Atypical features in a case of lethal perinatal Gaucher disease.
Patrick Frosk, Susan M Phillips, Marc R Del Bigio, Bernard N Chodirker

Neuropathol Appl Neurobiol· December 2014

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SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.
Patrick Frosk, Aizeddin A Mhanni, Mubeen F Rafay

J Child Neurol· March 2013

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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Lijia Huang, Katarzyna Szymanska, Victor L Jensen, Andreas R Janecke, A Micheil Innes, Patrick Frosk

Am J Hum Genet· December 2011

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