Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

(2014) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Agammaglobulinemia: causative mutations and their implications for novel therapies

(2013) Anna Berglöf et al.   Expert Review of Clinical Immunology

Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing

(2013) Barbara J. Evans   GENETICS IN MEDICINE

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

(2013) Marjan M. Weiss et al.   HUMAN MUTATION

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

(2013) Isaac J. Nijman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

(2013) C. Alexander Valencia et al.   PLoS One

RNF168 ubiquitylates 53BP1 and controls its response to DNA double-strand breaks

(2013) M. Bohgaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Next-generation sequencing: ready for the clinics?

(2012) AN Desai et al.   CLINICAL GENETICS

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

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

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

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

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

Disperse--a software system for design of selector probes for exon resequencing applications

(2009) J. Stenberg et al.   BIOINFORMATICS

Laboratory evaluation of primary immunodeficiencies

(2009) João B. Oliveira et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Use of Immunoglobulin Therapy for Patients With Primary Immune Deficiency: An Evidence-Based Practice Guideline

(2009) Nadine Shehata et al.   TRANSFUSION MEDICINE REVIEWS