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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

American journal of human genetics, 2014-06, Vol.94 (6), p.809-817

2014

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Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Human mutation, 2014-01, Vol.35 (1), p.45-49

2014

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Nature reviews. Genetics, 2013-10, Vol.14 (10), p.681-691

2013

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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

American journal of human genetics, 2018-01, Vol.102 (1), p.156-174

2018

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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Nature communications, 2018-11, Vol.9 (1), p.4885-15, Article 4885

2018

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.67-67, Article 67

2012

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Mutations in EZH2 Cause Weaver Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.110-118

2012

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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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Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

Human molecular genetics, 2011-05, Vol.20 (10), p.1966-1974

2011

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Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures

Journal of Neural Transmission, 2011-05, Vol.118 (5), p.795-808

2011

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

American journal of human genetics, 2012-02, Vol.90 (2), p.369-377

2012

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Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience

Frontiers in immunology, 2019-12, Vol.10, p.2940-2940

2019

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy

PloS one, 2019-11, Vol.14 (11), p.e0225656

2019

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Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic Mice

Cell reports (Cambridge), 2016-10, Vol.17 (3), p.862-875

2016

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Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Journal of medical genetics, 2014-07, Vol.51 (7), p.470-474

2014

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Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.143-143, Article 143

2022

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Journal of visualized experiments, 2018-04 (134)

2018

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Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

International journal of neonatal screening, 2023-07, Vol.9 (3), p.42

2023

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Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

BMC medical genetics, 2014-03, Vol.15 (1), p.36-36, Article 36

2014

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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.90-90, Article 90

2012

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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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A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation

Neurology and therapy, 2020-06, Vol.9 (1), p.187-191

2020

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Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

CMAJ open, 2021-07, Vol.9 (3), p.E802-E809

2021

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The PARLance of Parkinson disease

Autophagy, 2011-07, Vol.7 (7), p.790-792

2011

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature genetics, 2012-08, Vol.44 (8), p.934-940

2012

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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Mutations in EZH2 Cause Weaver Syndrome

Mutations in PIK3R1 Cause SHORT Syndrome

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic Mice

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

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

A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

The PARLance of Parkinson disease

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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