Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations inIL7Rdetected by tandem whole exome sequencing and chromosomal microarray

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

(2013) Wojciech Wiszniewski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

The Natural History of Children with Severe Combined Immunodeficiency: Baseline Features of the First Fifty Patients of the Primary Immune Deficiency Treatment Consortium Prospective Study 6901

(2013) Christopher C. Dvorak et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

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

The case for newborn screening for severe combined immunodeficiency and related disorders

(2012) Jennifer M. Puck   Annals of the New York Academy of Sciences

Copy Number Variation detection from 1000 Genomes project exon capture sequencing data

(2012) Jiantao Wu et al.   BMC BIOINFORMATICS

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Neutropenia in primary immunodeficiency

(2012) Robert Sokolic   CURRENT OPINION IN HEMATOLOGY

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles

(2012) Jennifer M. Puck   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The long quest for neonatal screening for severe combined immunodeficiency

(2012) Rebecca H. Buckley   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity

(2012) Jennifer T. Grier et al.   JOURNAL OF CLINICAL INVESTIGATION

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Varicella-zoster virus infections in immunocompromised patients - a single centre 6-years analysis

(2011) Verena Wiegering et al.   BMC Pediatrics

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

(2011) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

(2011) James W. Verbsky et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Disseminated Varicella Infection Caused by Varicella Vaccine Strain in a Child With Low Invariant Natural Killer T Cells and Diminished CD1d Expression

(2011) Tatjana Banovic et al.   JOURNAL OF INFECTIOUS DISEASES

In Vitro-Selected Drug-Resistant Varicella-Zoster Virus Mutants in the Thymidine Kinase and DNA Polymerase Genes Yield Novel Phenotype-Genotype Associations and Highlight Differences between Antiherpesvirus Drugs

(2011) G. Andrei et al.   JOURNAL OF VIROLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Vaccine-Acquired Rotavirus in Infants with Severe Combined Immunodeficiency

(2010) Niraj C. Patel et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Statewide Newborn Screening for Severe T-Cell Lymphopenia

(2009) John M. Routes   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Development of a routine newborn screening protocol for severe combined immunodeficiency

(2009) Mei W. Baker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiencies

(2009) Luigi D. Notarangelo   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Foscarnet Salvage Therapy for Acyclovir-Resistant Varicella Zoster

(2009) Todd Hatchette et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

(2008) Lawrence R. Shiow et al.   CLINICAL IMMUNOLOGY

RAPID: Resource of Asian Primary Immunodeficiency Diseases

(2008) S. Keerthikumar et al.   NUCLEIC ACIDS RESEARCH