Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unexpected exome sequencing result: De novoTRPS1mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

(2014) Ian Casci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Clinical whole-exome sequencing: are we there yet?

(2014) Paldeep Singh Atwal et al.   GENETICS IN MEDICINE

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

(2014) Samuel P. Strom et al.   GENETICS IN MEDICINE

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

(2014) Lina Basel-Vanagaite et al.   HUMAN GENETICS

Diagnostic Clinical Genome and Exome Sequencing

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

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

(2013) Kazuyuki Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

(2013) Willa Thorson et al.   HUMAN GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine