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

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee 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

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci

(2013) A D Børglum et al.   MOLECULAR PSYCHIATRY

Ethical Issues with Newborn Screening in the Genomics Era

(2012) Beth A. Tarini et al.   Annual Review of Genomics and Human Genetics

Joint Analysis of SNPs and Proteins Identifies RegulatoryIL18Gene Variations Decreasing the Chance of Spastic Cerebral Palsy

(2012) Mads Vilhelm Hollegaard et al.   HUMAN MUTATION

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

(2012) Allan Meldgaard Lund et al.   MOLECULAR GENETICS AND METABOLISM

Common variant at 16p11.2 conferring risk of psychosis

(2012) S Steinberg et al.   MOLECULAR PSYCHIATRY

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

(2012) Momoko Horikoshi et al.   NATURE GENETICS

Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

(2012) Bjarke Feenstra et al.   NATURE GENETICS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

A comparative analysis of exome capture

(2011) Jennifer S Parla et al.   GENOME BIOLOGY

Comprehensive comparison of three commercial human whole-exome capture platforms

(2011) Asan et al.   GENOME BIOLOGY

Whole exome capture in solution with 3 Gbp of data

(2010) Matthew N Bainbridge et al.   GENOME BIOLOGY

Whole genome microarray analysis, from neonatal blood cards

(2009) Jill Hardin et al.   BMC GENETICS

Genome-wide scans using archived neonatal dried blood spot samples

(2009) Mads V Hollegaard et al.   BMC GENOMICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

What would you do if you could sequence everything?

(2008) Avak Kahvejian et al.   NATURE BIOTECHNOLOGY

Newborn screening

(2008) Bridget Wilcken et al.   PATHOLOGY