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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

American journal of human genetics, 2014-02, Vol.94 (2), p.161-175

2014

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GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM

BMC bioinformatics, 2024-02, Vol.25 (1), p.84-84, Article 84

2024

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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2013-04, Vol.92 (4), p.632-636

2013

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Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

American journal of human genetics, 2014-08, Vol.95 (2), p.183-193

2014

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

American journal of human genetics, 2016-04, Vol.98 (4), p.772-781

2016

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A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

American journal of human genetics, 2012-10, Vol.91 (4), p.608-620

2012

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Mendelian Gene Discovery: Fast and Furious with No End in Sight

American journal of human genetics, 2019-09, Vol.105 (3), p.448-455

2019

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Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

American journal of human genetics, 2013-07, Vol.93 (1), p.181-190

2013

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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Thyroid (New York, N.Y.), 2017-01, Vol.27 (1), p.129

2017

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Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

PLoS genetics, 2015-06, Vol.11 (6), p.e1005273-e1005273

2015

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

Human molecular genetics, 2011-04, Vol.20 (7), p.1285-1289

2011

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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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Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

PLoS pathogens, 2017-11, Vol.13 (11), p.e1006703-e1006703

2017

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Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population

Circulation. Cardiovascular genetics, 2013-08, Vol.6 (4), p.327

2013

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Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

PLoS pathogens, 2019-02, Vol.15 (2), p.e1007588-e1007588

2019

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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

EBioMedicine, 2020-12, Vol.62, p.103075-103075, Article 103075

2020

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

HGG advances, 2023-07, Vol.4 (3), p.100213-100213, Article 100213

2023

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Centering Equity in Human Genetics and Genomics Advances

HGG advances, 2021-10, Vol.2 (4), p.100048-100048, Article 100048

2021

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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

HGG advances, 2023-07, Vol.4 (3), p.100198-100198, Article 100198

2023

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Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

HGG advances, 2021-10, Vol.2 (4), p.100051-100051, Article 100051

2021

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Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

HGG advances, 2023-10, Vol.4 (4), p.100232-100232, Article 100232

2023

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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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Targeted long-read sequencing identifies missing disease-causing variation

American journal of human genetics, 2021-08, Vol.108 (8), p.1436-1449

2021

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Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

PLoS genetics, 2015-08, Vol.11 (8), p.e1005424-e1005424

2015

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Estimating the human mutation rate using autozygosity in a founder population

Nature genetics, 2012-11, Vol.44 (11), p.1277-1281

2012

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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

Mendelian Gene Discovery: Fast and Furious with No End in Sight

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

Matchmaker Exchange

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Centering Equity in Human Genetics and Genomics Advances

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

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

Targeted long-read sequencing identifies missing disease-causing variation

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

Estimating the human mutation rate using autozygosity in a founder population

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