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

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

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

(2017) Yuya Kobayashi et al.   Genome Medicine

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

(2017) Kevin K. Ogden et al.   PLoS Genetics

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

(2016) Sharon A. Swanger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

(2016) Sami S. Amr et al.   GENETICS IN MEDICINE

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

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

(2016) Monkol Lek et al.   NATURE

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

(2016) James Zou et al.   Nature Communications

Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine

(2016) Jeremy J. Jay et al.   PLoS One

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

A roadmap for precision medicine in the epilepsies

(2015)   LANCET NEUROLOGY

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm 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

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

(2015) Slavé Petrovski et al.   PLoS Genetics

Feature Selection with theBorutaPackage

(2015) Miron B. Kursa et al.   Journal of Statistical Software

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

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

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Guidelines for investigating causality of sequence variants in human disease

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Genome-wide expression profiling of maize in response to individual and combined water and nitrogen stresses

(2013) Sabrina Humbert et al.   BMC GENOMICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology