Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRKDC mutations in a SCID patient with profound neurological abnormalities

(2013) Lisa Woodbine et al.   JOURNAL OF CLINICAL INVESTIGATION

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

(2013) Bum Jun Kim et al.   PLoS One

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

(2013) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development

(2012) J. C. Talbot et al.   DEVELOPMENT

Generation of mice with a conditional nullfraser syndrome 1(Fras1) allele

(2012) Jolanta E. Pitera et al.   GENESIS

Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

(2012) Izak J. Bisschoff et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing

(2012) Shan Dan et al.   PLoS One

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

(2011) Itai Berger et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

The polarity protein Pard3 is required for centrosome positioning during neurulation

(2010) Elim Hong et al.   DEVELOPMENTAL BIOLOGY

Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain

(2010) Dmitry Goryunov et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Rere controls retinoic acid signalling and somite bilateral symmetry

(2010) Gonçalo C. Vilhais-Neto et al.   NATURE

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis geneNFI

(2009) Arun Padmanabhan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA