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Frosk, Patrick
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1

Molecular characterization of 13 patients with PIK3CA‐relat..:

de Kock, Leanne ; Cuillerier, Alexanne ; Gillespie, Meredith...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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2

Loss of function mutations in GEMIN5 cause a neurodevelopme..:

Kour, Sukhleen ; Rajan, Deepa S. ; Fortuna, Tyler R....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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3

Compound heterozygous variants in SHQ1 are associated with ..:

Sleiman, Sophie ; Marshall, Aren E ; Dong, Xiaomin...
Human Molecular Genetics.  31 (2021)  4 - p. 614-624 , 2021
Link: https://doi.org/10.1093/..
 
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4

Multisystem inflammation and susceptibility to viral infect..:

Vavassori, Stefano ; Chou, Janet ; Faletti, Laura Eva...
Journal of Allergy and Clinical Immunology.  148 (2021)  2 - p. 381-393 , 2021
Link: https://doi.org/10.1016/..
 
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5

Acquired Microcephaly in a Patient with HECW2 Mutation:

Peikes, Tyler ; O'Carroll, Aoife ; Frosk, Patrick.
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  48 (2020)  3 - p. 435-437 , 2020
Link: https://doi.org/10.1017/..
 
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6

Characterization of a Unique Form of Arrhythmic Cardiomyopa..:

Abdelfatah, Nelly ; Chen, Ruping ; Duff, Henry J....
JACC: Basic to Translational Science.  4 (2019)  2 - p. 204-221 , 2019
Link: https://doi.org/10.1016/..
 
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7

Cover Image, Volume 179A, Number 2, February 2019:

Hartley, Jessica N. ; Simard, Louise R. ; Ly, Valentina..
American Journal of Medical Genetics Part A.  179 (2019)  2 - p. , 2019
Link: https://doi.org/10.1002/..
 
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8

The importance of functional validation after next‐generati..:

Lu, Henry Y. ; Sharma, Mehul ; Biggs, Catherine M....
Pediatric Allergy and Immunology.  29 (2018)  6 - p. 663-668 , 2018
Link: https://doi.org/10.1111/..
 
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9

A homozygous canonical splice acceptor site mutation in PRU..:

Hartley, Jessica N. ; Simard, Louise R. ; Ly, Valentina..
American Journal of Medical Genetics Part A.  179 (2018)  2 - p. 206-218 , 2018
Link: https://doi.org/10.1002/..
 
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10

RARE-22. MEDULLOBLASTOMA IN A CHILD WITH NEUROFIBROMATOSIS-..:

Vanan, Magimairajan Issai ; McDonald, Patrick ; Marles, Sandra...
Neuro-Oncology.  18 (2016)  suppl_6 - p. vi164-vi164 , 2016
Link: https://doi.org/10.1093/..
 
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11

A case of severe Menkes disease: Importance of laboratory t..:

Stevic, Ivan ; Szelemej, Paul ; Hartley, Jessica...
Clinical Biochemistry.  48 (2015)  15 - p. 1018-1019 , 2015
Link: https://doi.org/10.1016/..
 
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12

A novel CCBE1 mutation leading to a mild form of hennekam s..:

FORGE Canada Consortium ; Frosk, Patrick ; Chodirker, Bernard...
BMC Medical Genetics.  16 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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13

Scientific correspondence:

Frosk, Patrick ; Phillips, Susan M. ; Del Bigio, Marc R..
Neuropathology and Applied Neurobiology.  40 (2014)  7 - p. 946-950 , 2014
Link: https://doi.org/10.1111/..
 
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14

SCN1A Mutation Associated With Intractable Myoclonic Epilep..:

Frosk, Patrick ; Mhanni, Aizeddin A. ; Rafay, Mubeen F.
Journal of Child Neurology.  28 (2012)  3 - p. 389-391 , 2012
Link: https://doi.org/10.1177/..
 
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15

Recurrent Posterior Circulation Stroke in an Infant With Ba..:

Frosk, Patrick ; Salman, Michael S. ; Wrogemann, Jens..
Journal of Child Neurology.  24 (2009)  8 - p. 1019-1020 , 2009
Link: https://doi.org/10.1177/..
 
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