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The Role of PIEZO2 in Human Mechanosensation

The New England journal of medicine, 2016-10, Vol.375 (14), p.1355-1364

2016

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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

American journal of human genetics, 2014-11, Vol.95 (5), p.602-610

2014

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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

American journal of human genetics, 2015-12, Vol.97 (6), p.894-903

2015

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Brain (London, England : 1878), 2018-11, Vol.141 (11), p.3160-3178

2018

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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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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

American journal of human genetics, 2015-12, Vol.97 (6), p.886-893

2015

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When One Diagnosis Is Not Enough

The New England journal of medicine, 2017-01, Vol.376 (1), p.83-85

2017

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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

American journal of human genetics, 2015-01, Vol.96 (1), p.121-135

2015

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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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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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Mutations in PIK3R1 Cause SHORT Syndrome

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

2013

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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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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

American journal of human genetics, 2015-12, Vol.97 (6), p.922-932

2015

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Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation

Stem cell research, 2024-04, Vol.76, p.103344-103344, Article 103344

2024

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Automated syndrome diagnosis by three-dimensional facial imaging

Genetics in medicine, 2020-10, Vol.22 (10), p.1682-1693

2020

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

American journal of human genetics, 2012-05, Vol.90 (5), p.925-933

2012

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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

American journal of human genetics, 2012-06, Vol.90 (6), p.1088-1093

2012

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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

American journal of human genetics, 2014-08, Vol.95 (2), p.227-234

2014

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Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

Journal of medical genetics, 2016-12, Vol.53 (12), p.812-819

2016

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A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources

Canadian journal of neurological sciences, 2024-01, p.1-29

2024

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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Human genetics, 2014-03, Vol.133 (3), p.321-330

2014

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RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

American journal of human genetics, 2015-12, Vol.97 (6), p.862-868

2015

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The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Molecular brain, 2021-02, Vol.14 (1), p.27-27, Article 27

2021

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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.582-593

2019

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De novo variants in MPP5 cause global developmental delay and behavioral changes

Human molecular genetics, 2020-12, Vol.29 (20), p.3388-3401

2020

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The Role of PIEZO2 in Human Mechanosensation

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

When One Diagnosis Is Not Enough

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

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

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Mutations in PIK3R1 Cause SHORT Syndrome

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

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation

Automated syndrome diagnosis by three-dimensional facial imaging

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

De novo variants in MPP5 cause global developmental delay and behavioral changes

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