Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

(2016) Chloé Saunier et al.   HUMAN MUTATION

Neonatal screening for severe combined immunodeficiency in Brazil

(2016) Marilia Pyles Patto Kanegae et al.   Jornal de Pediatria

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Newborn screening for SCID: lessons learned

(2016) Becky J. Buelow et al.   Expert Review of Hematology

A 2.5-year snapshot of Mendelian discovery

(2016) Benjamin D. Solomon et al.   Molecular Genetics & Genomic Medicine

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

(2015) Heidi Carmen Howard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

(2015) Dale L. Bodian et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Can We Afford to Sequence Every Newborn Baby's Genome?

(2015) Jacques S. Beckmann   HUMAN MUTATION

The Duesseldorf Warning Signs for Primary Immunodeficiency: Is it Time to Change the Rules?

(2015) Petra Lankisch et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

History and current status of newborn screening for severe combined immunodeficiency

(2015) Antonia Kwan et al.   SEMINARS IN PERINATOLOGY

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

(2015) Jillian P. Casey et al.   Scientific Reports

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

(2015) Gustavo Glusman et al.   Frontiers in Genetics

Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

(2014) Nikita Raje et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay

(2014) Stuart P. Adams et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009

(2014) Sung-Yun Pai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Clinical Genomic Database

(2013) B. D. Solomon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Features That Identify Children With Primary Immunodeficiency Diseases

(2011) A. Subbarayan et al.   PEDIATRICS

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

(2010) A. McKenna et al.   GENOME 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

Primary immunodeficiencies

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