A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

(2020) Holger Hengel et al.   Nature Communications

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

(2017) Stefano Volpi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Glycosaminoglycans detection methods: Applications of mass spectrometry

(2017) Francyne Kubaski et al.   MOLECULAR GENETICS AND METABOLISM

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

(2017) Cornelis Blauwendraat et al.   NEUROBIOLOGY OF AGING

Amino Acid Interaction (INTAA) web server

(2017) Jakub Galgonek et al.   NUCLEIC ACIDS RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Neurological Aspects of Human Glycosylation Disorders

(2015) Hudson H. Freeze et al.   Annual Review of Neuroscience

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Next-generation sequencing applied to rare diseases genomics

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Deciphering key features in protein structures with the new ENDscript server

(2014) Xavier Robert et al.   NUCLEIC ACIDS RESEARCH

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

UDP-glucose Dehydrogenase Activity and Optimal Downstream Cellular Function Require Dynamic Reorganization at the Dimer-Dimer Subunit Interfaces

(2013) Annastasia S. Hyde et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

UDP-glucose Dehydrogenase Polymorphisms from Patients with Congenital Heart Valve Defects Disrupt Enzyme Stability and Quaternary Assembly

(2012) Annastasia S. Hyde et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Introduction to Proteoglycans and Their Localization

(2012) John R. Couchman et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

An international registry for neurodegeneration with brain iron accumulation

(2012) Bernadette Kalman et al.   Orphanet Journal of Rare Diseases

Conformational Flexibility in the Allosteric Regulation of Human UDP-α-d-Glucose 6-Dehydrogenase

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Structure and Mechanism of Human UDP-glucose 6-Dehydrogenase

(2011) Sigrid Egger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

(2010) Jing Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association identifies candidate genes that influence the human electroencephalogram

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols