Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

(2015) Janson White et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder

(2015) Yi Liu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Foxp1/2/4 regulate endochondral ossification as a suppresser complex

(2015) Haixia Zhao et al.   DEVELOPMENTAL BIOLOGY

The FOXP1, FOXP2 and FOXP4 transcription factors are required for islet alpha cell proliferation and function in mice

(2015) Jason M. Spaeth et al.   DIABETOLOGIA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

GRM7 Regulates Embryonic Neurogenesis via CREB and YAP

(2015) Wenlong Xia et al.   Stem Cell Reports

Pontocerebellar hypoplasia

(2014) Sabine Rudnik-Schöneborn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Abnormalities inFOXP1Are Associated with Congenital Heart Defects

(2013) Sheng-Wei Chang et al.   HUMAN MUTATION

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Role of metabotropic glutamate receptor 7 in autism spectrum disorders: A pilot study

(2012) You Yang et al.   LIFE SCIENCES

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Myosin-Va transports the endoplasmic reticulum into the dendritic spines of Purkinje neurons

(2010) Wolfgang Wagner et al.   NATURE CELL BIOLOGY

The H3K36 demethylase Jhdm1b/Kdm2b regulates cell proliferation and senescence through p15Ink4b

(2008) Jin He et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY