4.8 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia

Ying-Zhang Chen et al.

ANNALS OF NEUROLOGY (2014)

Article Hematology

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

Andrew J. Murphy et al.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2014)

Article Biochemistry & Molecular Biology

The Evolution of Human Cells in Terms of Protein Innovation

Adam J. Sardar et al.

MOLECULAR BIOLOGY AND EVOLUTION (2014)

Article Multidisciplinary Sciences

De novo mutations in schizophrenia implicate synaptic networks

Menachem Fromer et al.

NATURE (2014)

Article Multidisciplinary Sciences

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur et al.

NATURE (2014)

Article Multidisciplinary Sciences

A promoter-level mammalian expression atlas

Alistair R. R. Forrest et al.

NATURE (2014)

Article Multidisciplinary Sciences

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

Christine Wahlquist et al.

NATURE (2014)

Article Genetics & Heredity

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

Kaitlin E. Samocha et al.

NATURE GENETICS (2014)

Review Urology & Nephrology

Next-generation sequencing for research and diagnostics in kidney disease

Kirsten Y. Renkema et al.

NATURE REVIEWS NEPHROLOGY (2014)

Review Clinical Neurology

The hidden genetics of epilepsy-a clinically important new paradigm

Rhys H. Thomas et al.

NATURE REVIEWS NEUROLOGY (2014)

Article Biochemistry & Molecular Biology

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

Eugene Bragin et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

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

Stephanie J. Spielman et al.

JOURNAL OF MOLECULAR EVOLUTION (2013)

Article Multidisciplinary Sciences

De novo mutations in epileptic encephalopathies

Andrew S. Allen et al.

NATURE (2013)

Article Multidisciplinary Sciences

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

Samir Zaidi et al.

NATURE (2013)

Article Biochemistry & Molecular Biology

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

Andrea Franceschini et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Biochemical Research Methods

Chapter 15: Disease Gene Prioritization

Yana Bromberg

PLOS COMPUTATIONAL BIOLOGY (2013)

Article Genetics & Heredity

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slave Petrovski et al.

PLOS GENETICS (2013)

Article Clinical Neurology

Epi4K: Gene discovery in 4,000 genomes

Sam Berkovic et al.

EPILEPSIA (2012)

Article Multidisciplinary Sciences

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

Benjamin M. Neale et al.

NATURE (2012)

Article Biotechnology & Applied Microbiology

Uberon, an integrative multi-species anatomy ontology

Christopher J. Mungall et al.

GENOME BIOLOGY (2012)

Article Biochemical Research Methods

Cytoscape 2.8: new features for data integration and network visualization

Michael E. Smoot et al.

BIOINFORMATICS (2011)

Article Biochemistry & Molecular Biology

SUPERFAMILY 1.75 including a domain-centric gene ontology method

David A. de Lima Morais et al.

NUCLEIC ACIDS RESEARCH (2011)

Review Clinical Neurology

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

Andrew Escayg et al.

EPILEPSIA (2010)

Article Cardiac & Cardiovascular Systems

Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation

Tao Yang et al.

HEART RHYTHM (2010)

Review Neurosciences

NaV1.1 channels and epilepsy

William A. Catterall et al.

JOURNAL OF PHYSIOLOGY-LONDON (2010)

Article Biochemistry & Molecular Biology

The Pfam protein families database

Robert D. Finn et al.

NUCLEIC ACIDS RESEARCH (2010)

Review Biotechnology & Applied Microbiology

Voltage-gated potassium channels as therapeutic targets

Heike Wulff et al.

NATURE REVIEWS DRUG DISCOVERY (2009)

Article Clinical Neurology

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

B. A. Neubauer et al.

NEUROLOGY (2008)

Article Biochemistry & Molecular Biology

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

Leon-Charles Tranchevent et al.

NUCLEIC ACIDS RESEARCH (2008)

Article Multidisciplinary Sciences

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

Kasper Lage et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Review Biochemistry & Molecular Biology

Nuclear receptors: Decoding metabolic disease

Junichiro Sonoda et al.

FEBS LETTERS (2008)

Article Cardiac & Cardiovascular Systems

Congenital heart defects in Fgfr2-IIIb and Fgf10 mutant mice

Anita Marguerie et al.

CARDIOVASCULAR RESEARCH (2006)

Article Genetics & Heredity

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

Lude Franke et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Biochemical Research Methods

Development and implementation of an algorithm for detection of protein complexes in large interaction networks

Md Altaf-Ul-Amin et al.

BMC BIOINFORMATICS (2006)

Article Cardiac & Cardiovascular Systems

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero

K Hong et al.

CARDIOVASCULAR RESEARCH (2005)

Article Genetics & Heredity

SCN1A mutations and epilepsy

JC Mulley et al.

HUMAN MUTATION (2005)

Review Genetics & Heredity

Hedgehog signaling and congenital malformations

E Nieuwenhuis et al.

CLINICAL GENETICS (2005)

Review Biochemistry & Molecular Biology

Olfactory receptors

I Gaillard et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2004)

Article Biochemistry & Molecular Biology

ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter

JJ Wenzel et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)

Article Biochemistry & Molecular Biology

SIFT: predicting amino acid changes that affect protein function

PC Ng et al.

NUCLEIC ACIDS RESEARCH (2003)

Article Biochemical Research Methods

An automated method for finding molecular complexes in large protein interaction networks

GD Bader et al.

BMC BIOINFORMATICS (2003)

Article Biochemistry & Molecular Biology

STRING: a database of predicted functional associations between proteins

C von Mering et al.

NUCLEIC ACIDS RESEARCH (2003)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)

Article Genetics & Heredity

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

A Maugeri et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Developmental Biology

Developmentally regulated expression of the murine ortholog of the potassium channel KIR4.2 (KCNJ15)

E Thiery et al.

MECHANISMS OF DEVELOPMENT (2000)