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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

PLoS genetics, 2010-05, Vol.6 (6), p.e1000991-e1000991

2010

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Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1093-1103

2020

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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

PLoS genetics, 2022-12, Vol.18 (12), p.e1010504

2022

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Next‐generation sequencing and the evolution of data sharing

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2633-2635

2021

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

American journal of human genetics, 2015-08, Vol.97 (2), p.199-215

2015

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Microdeletions of 3q29 Confer High Risk for Schizophrenia

American journal of human genetics, 2010-08, Vol.87 (2), p.229-236

2010

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Matchmaker Exchange

Current Protocols in Human Genetics, 2017-10, Vol.95 (1), p.9.31.1-9.31.15

2017

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Identification and analyses of exonic and copy number variants in spastic paraplegia

Scientific reports, 2024-06, Vol.14 (1), p.14331-9, Article 14331

2024

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Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

Journal of human genetics, 2020-12, Vol.65 (12), p.1115-1123

2020

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Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1796-1800

2020

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A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.306-311

2019

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The characterization of twenty sequenced human genomes

PLoS genetics, 2010-09, Vol.6 (9), p.e1001111

2010

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A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

American journal of human genetics, 2016-05, Vol.98 (5), p.909-918

2016

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Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1761-1766

2020

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Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.669-675

2018

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Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3284-3286

2021

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Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Genome research, 2011-10, Vol.21 (10), p.1720

2011

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γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa

JAMA dermatology (Chicago, Ill.), 2015-06, Vol.151 (6), p.668

2015

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

Next‐generation sequencing and the evolution of data sharing

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Microdeletions of 3q29 Confer High Risk for Schizophrenia

Insights into genetics, human biology and disease gleaned from family based genomic studies

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Matchmaker Exchange

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Identification and analyses of exonic and copy number variants in spastic paraplegia

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

The characterization of twenty sequenced human genomes

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome

Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

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