Mosaic mutations in early-onset genetic diseases

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

(2015) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sudden unexplained death in childhood: A comparison of cases with and without a febrile seizure history

(2015) Dale C. Hesdorffer et al.   EPILEPSIA

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series

(2014) Nupoor Narula et al.   PEDIATRIC CARDIOLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

(2011) Qianqian Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sudden, Unexpected Death in Epilepsy

(2011) Orrin Devinsky   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Enhanced tonic GABAA inhibition in typical absence epilepsy

(2009) David W Cope et al.   NATURE MEDICINE

Sudden Death, Febrile Seizures, and Hippocampal and Temporal Lobe Maldevelopment in Toddlers: A New Entity

(2009) Hannah C. Kinney et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS