Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

(2017) Robert J Currier et al.   GENETICS IN MEDICINE

Precision newborn screening for lysosomal disorders

(2017) Melissa M Minter Baerg et al.   GENETICS IN MEDICINE

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

(2017) Anita M. Quintana et al.   HUMAN MOLECULAR GENETICS

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification

(2017) Laia Bassaganyas et al.   HUMAN MUTATION

Newborn Sequencing in Genomic Medicine and Public Health

(2017) Jonathan S. Berg et al.   PEDIATRICS

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

(2016) Martina I. Lefterova et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2016) Monkol Lek et al.   NATURE

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA

(2016) Jesper Buchhave Poulsen et al.   PLoS One

Analysis of archived residual newborn screening blood spots after whole genome amplification

(2015) Brandi L. Cantarel et al.   BMC GENOMICS

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

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

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

(2014) Arindam Bhattacharjee et al.   GENETICS IN MEDICINE

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing

(2013) Mads Vilhelm Hollegaard et al.   MOLECULAR GENETICS AND METABOLISM

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

(2012) Lisa Feuchtbaum et al.   GENETICS IN MEDICINE

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

(2012) David Coelho et al.   NATURE GENETICS

Letter to the Editor: On the stability and ranking of predictors from random forest variable importance measures

(2011) K. K. Nicodemus   BRIEFINGS IN BIOINFORMATICS

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Impact of Second-Tier Testing on the Effectiveness of Newborn Screening

(2010) D. H. Chace et al.   CLINICAL CHEMISTRY

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

(2010) C. T. Turgeon et al.   CLINICAL CHEMISTRY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12

(2010) Edward V. Quadros et al.   HUMAN MUTATION

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

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

Transcobalamin II deficiency at birth

(2009) Rene Ratschmann et al.   MOLECULAR GENETICS AND METABOLISM

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

(2008) C. Turgeon et al.   CLINICAL CHEMISTRY