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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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Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

Genetics in medicine, 2021-03, Vol.23 (3), p.451-460

2021

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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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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Nature (London), 2011-09, Vol.477 (7363), p.211-215

2011

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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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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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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

Human molecular genetics, 2015-10, Vol.24 (R1), p.R60-R66

2015

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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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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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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.308-313

2012

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A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

American journal of human genetics, 2013-06, Vol.92 (6), p.996-1000

2013

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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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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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Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

American journal of human genetics, 2014-01, Vol.94 (1), p.73-79

2014

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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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Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Nature communications, 2024-04, Vol.15 (1), p.3655-3655, Article 3655

2024

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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 PIK3R1 Cause SHORT Syndrome

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

2013

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

American journal of human genetics, 2012-04, Vol.90 (4), p.693-700

2012

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Clinical and translational science, 2018-01, Vol.11 (1), p.21-27

2018

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Consent Codes: Upholding Standard Data Use Conditions

PLoS genetics, 2016-01, Vol.12 (1), p.e1005772-e1005772

2016

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Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

American journal of human genetics, 2010-02, Vol.86 (2), p.213-221

2010

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

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

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

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

When One Diagnosis Is Not Enough

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

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

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

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

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

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

Mutations in EZH2 Cause Weaver Syndrome

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Mutations in PIK3R1 Cause SHORT Syndrome

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Consent Codes: Upholding Standard Data Use Conditions

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

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