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

CNS involvement and treatment with interferon-  are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients

(2011) L. Arnaud et al.   BLOOD

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

(2011) Stéphanie Boisson-Dupuis et al.   PLoS One

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

H Syndrome: Recently Defined Genodermatosis With Distinct Histologic Features. A Morphological, Histochemical, Immunohistochemical, and Ultrastructural Study of 10 Cases

(2010) Victoria Doviner et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

A Case of H Syndrome Showing Immunophenotye Similarities to Rosai–Dorfman Disease

(2010) Emily Avitan-Hersh et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

(2010) Alexandre Alcaïs et al.   Annals of the New York Academy of Sciences

NMD: RNA biology meets human genetic medicine

(2010) Madhuri Bhuvanagiri et al.   BIOCHEMICAL JOURNAL

H syndrome: novel and recurrent mutations inSLC29A3

(2010) T.P. Priya et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

(2010) Neil V. Morgan et al.   PLoS Genetics

Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3

(2009) Rajgopal Govindarajan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

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

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genome-Wide Identification of Alternative Splice Forms Down-Regulated by Nonsense-Mediated mRNA Decay in Drosophila

(2009) Kasper Daniel Hansen et al.   PLoS Genetics

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

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

Rhinoscleroma: A French National Retrospective Study of Epidemiological and Clinical Features

(2008) Loïc de Pontual et al.   CLINICAL INFECTIOUS DISEASES

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE

Human equilibrative nucleoside transporter (ENT) family of nucleoside and nucleobase transporter proteins

(2008) J. D. Young et al.   XENOBIOTICA