Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia

(2011) Nicos Skordis et al.   CLINICAL BIOCHEMISTRY

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

(2011) S. F. Kingsmore et al.   Science Translational Medicine

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing

(2010) H. C. Fan et al.   CLINICAL CHEMISTRY

Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence

(2010) Muin J Khoury et al.   GENETICS IN MEDICINE

Expanded newborn screening: social and ethical issues

(2010) Jean-Louis Dhondt   JOURNAL OF INHERITED METABOLIC DISEASE

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

A universal carrier test for the long tail of Mendelian disease

(2010) Balaji S. Srinivasan et al.   REPRODUCTIVE BIOMEDICINE ONLINE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association

(2009) Richard T. Kloos (Chair) et al.   THYROID

Carrier screening in individuals of Ashkenazi Jewish descent

(2008) Susan J Gross et al.   GENETICS IN MEDICINE

A systematic review of perceived risks, psychological and behavioral impacts of genetic testing

(2008) Jodi T Heshka et al.   GENETICS IN MEDICINE

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Genomic Convergence Analysis of Schizophrenia: mRNA Sequencing Reveals Altered Synaptic Vesicular Transport in Post-Mortem Cerebellum

(2008) Joann Mudge et al.   PLoS One

Transcriptome sequencing of malignant pleural mesothelioma tumors

(2008) D. J. Sugarbaker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA