Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Identification of Two Novel Mutations inSLC29A3Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies ofSLC29A3(hENT3) in Human Skin

(2012) Muhammad Farooq et al.   DERMATOLOGY

Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children

(2012) Fan Zhang et al.   JOURNAL OF CLINICAL DENSITOMETRY

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

(2012) Alexandre Bolze et al.   PLoS One

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Reorganizing the protein space at the Universal Protein Resource (UniProt)

(2011)   NUCLEIC ACIDS RESEARCH

Equilibrative Nucleoside Transporter 3 Deficiency Perturbs Lysosome Function and Macrophage Homeostasis

(2011) C.-L. Hsu et al.   SCIENCE

Expanding the clinical spectrum of SLC29A3 gene defects

(2010) Ronen Spiegel et al.   European Journal of Medical Genetics

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability

(2010) Nayoung Kang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

(2009) Simon T. Cliffe et al.   HUMAN MOLECULAR GENETICS

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

(2008) Vered Molho-Pessach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and radiologic findings in an adult male with dysosteosclerosis

(2008) Edmond G. Lemire et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

(2008) Dominik Seelow et al.   PLoS One