Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Diagnostic yield of genetic tests in epilepsy

(2019) Iván Sánchez Fernández et al.   NEUROLOGY

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

(2018) Ingo Helbig et al.   HUMAN MUTATION

Quantifying the contribution of recessive coding variation to developmental disorders

(2018) Hilary C. Martin et al.   SCIENCE

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

(2017) Christopher A Cassa et al.   NATURE GENETICS

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Early-Life Epilepsies and the Emerging Role of Genetic Testing

(2017) Anne T. Berg et al.   JAMA Pediatrics

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans

(2017) Douglas R. Smith et al.   PLoS One

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

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

Review of Commercially Available Epilepsy Genetic Panels

(2015) Chelsea Chambers et al.   Journal of Genetic Counseling

A roadmap for precision medicine in the epilepsies

(2015)   LANCET NEUROLOGY

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

(2015) Rikke S. Møller et al.   Neurotherapeutics

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Advancing epilepsy genetics in the genomic era

(2015) Candace T. Myers et al.   Genome Medicine

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

The hidden genetics of epilepsy—a clinically important new paradigm

(2014) Rhys H. Thomas et al.   Nature Reviews Neurology

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

GLUT1 deficiency syndrome 2013: Current state of the art

(2013) Valentina De Giorgis et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA