De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

(2013) Darrell L. Dinwiddie et al.   GENOMICS

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations

(2012) Pamela Magini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

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

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

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

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

(2012)   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De Novo Mutation in Schizophrenia

(2012) E. Rees et al.   SCHIZOPHRENIA BULLETIN

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

(2011) Rob Hastings et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS