Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

Estimating genotype error rates from high-coverage next-generation sequence data

(2014) Jeffrey D. Wall et al.   GENOME RESEARCH

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

(2013) Erin Rooney Riggs et al.   HUMAN MUTATION

Disease-Related Growth Factor and Embryonic Signaling Pathways Modulate an Enhancer of TCF21 Expression at the 6q23.2 Coronary Heart Disease Locus

(2013) Clint L. Miller et al.   PLoS Genetics

Pharmacogenomics Knowledge for Personalized Medicine

(2012) M Whirl-Carrillo et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

An informatics approach to analyzing the incidentalome

(2012) Jonathan S. Berg et al.   GENETICS IN MEDICINE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Chromosomal Haplotypes by Genetic Phasing of Human Families

(2011) Jared C. Roach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

(2011) Frederick E. Dewey et al.   PLoS Genetics

Gene Coexpression Network Topology of Cardiac Development, Hypertrophy, and Failure

(2010) Frederick E. Dewey et al.   Circulation-Cardiovascular Genetics

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Advances in understanding cancer genomes through second-generation sequencing

(2010) Matthew Meyerson et al.   NATURE REVIEWS GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

The $1,000 genome, the $100,000 analysis?

(2010) Elaine R Mardis   Genome Medicine

α1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current

(2009) Jianding Cheng et al.   Circulation-Arrhythmia and Electrophysiology

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

α-1-Syntrophin Mutation and the Long-QT Syndrome

(2008) Geru Wu et al.   Circulation-Arrhythmia and Electrophysiology

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

(2008) K. Ueda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA