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Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D

PLoS genetics, 2009-02, Vol.5 (2), p.e1000369-e1000369

2009

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Cancer discovery, 2015-02, Vol.5 (2), p.135-142

2015

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1084-1088

2016

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Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.387-397

2018

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Mutations in PIK3R1 Cause SHORT Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.158-166

2013

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Timing of birth and risk of multiple sclerosis: population based study

BMJ (Online), 2005-01, Vol.330 (7483), p.120

International edition, 2005

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Periodic breathing in patients with NALCN mutations

Journal of human genetics, 2018-10, Vol.63 (10), p.1093-1096

2018

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A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Genes, 2023-01, Vol.14 (1), p.108

2023

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The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies

Genes, 2022-05, Vol.13 (5), p.872

2022

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Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility

Proceedings of the National Academy of Sciences - PNAS, 2009-05, Vol.106 (18), p.7542-7547

2009

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Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance

Human molecular genetics, 2005-07, Vol.14 (14), p.2019-2026

2005

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Identification of Genes for Childhood Heritable Diseases

Annual review of medicine, 2014-01, Vol.65 (1), p.19-31

2014

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The inheritance of resistance alleles in multiple sclerosis

PLoS genetics, 2007-09, Vol.3 (9), p.1607-1613

2007

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Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

Journal of human genetics, 2017-06, Vol.62 (6), p.661-663

2017

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Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Neuromuscular disorders : NMD, 2015-10, Vol.25 (10), p.794-799

2015

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The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of clinical and translational neurology, 2022-12, Vol.9 (12), p.1941-1952

2022

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Heterozygous Variants in the DNA‐binding Domain of c‐Myb May Affect Normal B/T Cell Development

HemaSphere, 2022-10, Vol.6 (10), p.e774-n/a

2022

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Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

American journal of human genetics, 2022-11, Vol.109 (11), p.1947-1959

2022

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Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.504-512

2016

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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

The Journal of experimental medicine, 2021-10, Vol.218 (10)

2021

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Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Genetics (Austin), 2017-12, Vol.207 (4), p.1501-1518

2017

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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Canadian Medical Association journal (CMAJ), 2016-08, Vol.188 (11), p.E254

2016

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Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Human molecular genetics, 2015-09, Vol.24 (18), p.5109-5114

2015

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Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

Mutations in PIK3R1 Cause SHORT Syndrome

Timing of birth and risk of multiple sclerosis: population based study

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Periodic breathing in patients with NALCN mutations

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies

Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility

Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance

Identification of Genes for Childhood Heritable Diseases

The inheritance of resistance alleles in multiple sclerosis

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Heterozygous Variants in the DNA‐binding Domain of c‐Myb May Affect Normal B/T Cell Development

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

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