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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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Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.993-997

2019

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Host genetic risk factors for West Nile virus infection and disease progression

PloS one, 2011-09, Vol.6 (9), p.e24745-e24745

2011

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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

American journal of human genetics, 2015-05, Vol.96 (5), p.841-849

2015

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Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2906-2911

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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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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Exome sequencing identifies the cause of a mendelian disorder

Nature genetics, 2010-01, Vol.42 (1), p.30-35

2010

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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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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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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Nature genetics, 2010-09, Vol.42 (9), p.790-793

2010

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

American journal of human genetics, 2014-05, Vol.94 (5), p.734-744

2014

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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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Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis

American journal of respiratory cell and molecular biology, 2021-08, Vol.65 (2), p.157-166

2021

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.462-473

2015

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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

American journal of respiratory and critical care medicine, 2023-05, Vol.207 (10), p.1324-1333

2023

Volltextzugriff (PDF)

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

American journal of human genetics, 2020-08, Vol.107 (2), p.293-310

2020

Volltextzugriff (PDF)

The clinical utility of sequencing the entirety of CFTR

Journal of cystic fibrosis, 2024-05

2024

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Club cell secretory protein and lung function in children with cystic fibrosis

Journal of cystic fibrosis, 2022-09, Vol.21 (5), p.811-820

2022

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A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

Human molecular genetics, 2014-03, Vol.23 (6), p.1602-1605

2014

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human mutation, 2016-07, Vol.37 (7), p.653-660

2016

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1511-1516

2011

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Response to Hall et al

American journal of human genetics, 2020-12, Vol.107 (6), p.1188-1189

2020

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SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3165-3171

2016

Volltextzugriff (PDF)

Toll-like Receptor Polymorphism Associations With HIV-1 Outcomes Among Sub-Saharan Africans

The Journal of infectious diseases, 2014-05, Vol.209 (10), p.1623-1627

2014

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

Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

Host genetic risk factors for West Nile virus infection and disease progression

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1

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

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

Exome sequencing identifies the cause of a mendelian disorder

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

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

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

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

Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The clinical utility of sequencing the entirety of CFTR

Club cell secretory protein and lung function in children with cystic fibrosis

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Response to Hall et al

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

Toll-like Receptor Polymorphism Associations With HIV-1 Outcomes Among Sub-Saharan Africans

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