EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization

Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia

(2014) Ying-Zhang Chen et al.   ANNALS OF NEUROLOGY

Deficiency of ATP-Binding Cassette Transporter B6 in Megakaryocyte Progenitors Accelerates Atherosclerosis in Mice

(2014) Andrew J. Murphy et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The Evolution of Human Cells in Terms of Protein Innovation

(2014) Adam J. Sardar et al.   MOLECULAR BIOLOGY AND EVOLUTION

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

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

A promoter-level mammalian expression atlas

(2014)   NATURE

Inhibition of miR-25 improves cardiac contractility in the failing heart

(2014) Christine Wahlquist et al.   NATURE

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

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

Next-generation sequencing for research and diagnostics in kidney disease

(2014) Kirsten Y. Renkema et al.   Nature Reviews Nephrology

The hidden genetics of epilepsy—a clinically important new paradigm

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

Membrane Environment Imposes Unique Selection Pressures on Transmembrane Domains of G Protein-Coupled Receptors

(2013) Stephanie J. Spielman et al.   JOURNAL OF MOLECULAR EVOLUTION

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

(2013) Samir Zaidi et al.   NATURE

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

Chapter 15: Disease Gene Prioritization

(2013) Yana Bromberg   PLoS Computational Biology

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Epi4K: Gene discovery in 4,000 genomes

(2012)   EPILEPSIA

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Uberon, an integrative multi-species anatomy ontology

(2012) Christopher J Mungall et al.   GENOME BIOLOGY

Cytoscape 2.8: new features for data integration and network visualization

(2010) M. E. Smoot et al.   BIOINFORMATICS

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation

(2010) Tao Yang et al.   HEART RHYTHM

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

SUPERFAMILY 1.75 including a domain-centric gene ontology method

(2010) D. A. de Lima Morais et al.   NUCLEIC ACIDS RESEARCH

Voltage-gated potassium channels as therapeutic targets

(2009) Heike Wulff et al.   NATURE REVIEWS DRUG DISCOVERY

The Pfam protein families database

(2009) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations

(2008) Melissa Yana Frédéric et al.   HUMAN MUTATION

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

(2008) B. A. Neubauer et al.   NEUROLOGY

ENDEAVOUR update: a web resource for gene prioritization in multiple species

(2008) L.-C. Tranchevent et al.   NUCLEIC ACIDS RESEARCH

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

(2008) K. Lage et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA