Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gender bias in individual radiosensitivity and the association with genetic polymorphic variations

(2016) Ghazi Alsbeih et al.   RADIOTHERAPY AND ONCOLOGY

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Severe Combined Immunodeficiency Disorders

(2015) Ivan K. Chinn et al.   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism

(2014) María J. Fuentes-Raspall et al.   APOPTOSIS

Memory B cell subsets and plasmablasts are lower in early than in long-standing Rheumatoid Arthritis

(2014) Anna Laura Fedele et al.   BMC IMMUNOLOGY

Genetic factors in individual radiation sensitivity

(2014) Sabine Hornhardt et al.   DNA REPAIR

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility

(2012) Shuki Mizutani et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Emergency treatment for ζ chain–associated protein of 70 kDa (ZAP70) deficiency

(2012) Vy Hong-Diep Kim et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

(2011) S S Devgan et al.   CELL DEATH AND DIFFERENTIATION

DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome

(2011) Rachel M Blundred et al.   Expert Review of Clinical Immunology

Genetic variation in radiation-induced cell death

(2011) D. A. Smirnov et al.   GENOME RESEARCH

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(2011) Alessandro Michelutti et al.   MOLECULAR MEDICINE

Genomic Instability, Defective Spermatogenesis, Immunodeficiency, and Cancer in a Mouse Model of the RIDDLE Syndrome

(2011) Toshiyuki Bohgaki et al.   PLoS Genetics

Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes

(2010) Chaim M. Roifman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

ZAP70: a master regulator of adaptive immunity

(2010) Alain Fischer et al.   Seminars in Immunopathology

The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage

(2009) Grant S. Stewart et al.   CELL

DNA Repair: A RIDDLE at a Double-Strand Break

(2009) Kevin Hiom   CURRENT BIOLOGY

DNA double strand break repair defects, primary immunodeficiency disorders, and ‘radiosensitivity’

(2009) Shareef A Nahas et al.   Current Opinion in Allergy and Clinical Immunology

Hypomorphic mutation ofZAP70in human results in a late onset immunodeficiency and no autoimmunity

(2009) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

VARIATIONS IN RADIOSENSITIVITY AMONG INDIVIDUALS: A POTENTIAL IMPACT ON RISK ASSESSMENT?

(2009) Takamitsu A. Kato et al.   HEALTH PHYSICS

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

(2008) Tuba Turul et al.   EUROPEAN JOURNAL OF PEDIATRICS