A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
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journal
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February 2012 |
Walking the Interactome for Prioritization of Candidate Disease Genes
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journal
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April 2008 |
Enhancing the Prioritization of Disease-Causing Genes through Tissue Specific Protein Interaction Networks
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journal
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September 2012 |
Diagnostic Exome Sequencing — Are We There Yet?
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journal
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November 2012 |
Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies
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journal
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January 2013 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
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journal
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April 2012 |
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
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journal
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April 2012 |
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
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journal
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September 2013 |
Network Medicine — From Obesity to the “Diseasome”
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journal
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July 2007 |
PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data
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journal
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October 2012 |
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
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journal
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September 2012 |
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
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journal
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April 2012 |
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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journal
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July 2012 |
Finding Genes That Underlie Complex Traits
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journal
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December 2002 |
A human phenome-interactome network of protein complexes implicated in genetic disorders
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journal
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March 2007 |
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
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journal
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December 2012 |
Mendelian disorders deserve more attention
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journal
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March 2006 |
MutationTaster evaluates disease-causing potential of sequence alterations
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journal
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August 2010 |
Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
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journal
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November 2012 |
Tabix: fast retrieval of sequence features from generic TAB-delimited files
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journal
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January 2011 |
Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation
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journal
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April 2012 |
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
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journal
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December 2012 |
New insights into familial diarrhea syndrome
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journal
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July 2012 |
STRING v9.1: protein-protein interaction networks, with increased coverage and integration
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journal
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November 2012 |
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
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journal
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February 2012 |
The power of protein interaction networks for associating genes with diseases
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journal
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February 2010 |
Improved exome prioritization of disease genes through cross-species phenotype comparison
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journal
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October 2013 |
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
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journal
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June 2012 |
eXtasy: variant prioritization by genomic data fusion
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journal
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September 2013 |
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
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journal
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April 2012 |
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
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journal
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January 2014 |
Adding Protein Context to the Human Protein-Protein Interaction Network to Reveal Meaningful Interactions
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journal
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January 2013 |
A guide to web tools to prioritize candidate genes
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journal
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March 2010 |
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
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journal
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January 2011 |
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
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journal
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November 2012 |
The variant call format and VCFtools
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journal
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June 2011 |
Gene prioritization through genomic data fusion
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journal
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May 2006 |
NMNAT1 mutations cause Leber congenital amaurosis
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journal
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July 2012 |
Unlocking Mendelian disease using exome sequencing
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journal
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January 2011 |
Protein–Protein Interactions Essentials: Key Concepts to Building and Analyzing Interactome Networks
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journal
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June 2010 |
Accounting for Human Polymorphisms Predicted to Affect Protein Function
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journal
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March 2002 |
Computational tools for prioritizing candidate genes: boosting disease gene discovery
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journal
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July 2012 |
Strategies for exome and genome sequence data analysis in disease-gene discovery projects
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journal
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June 2011 |
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
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journal
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January 2012 |
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
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journal
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January 2012 |
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
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journal
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October 2012 |
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
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journal
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November 2012 |
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
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journal
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March 2003 |
International Rare Disease Research Consortium Commits to Aggressive Goals
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journal
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July 2011 |
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
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journal
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January 2012 |
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
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journal
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January 2011 |
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
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journal
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July 2011 |
Chapter 4: Protein Interactions and Disease
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journal
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December 2012 |
Association of genes to genetically inherited diseases using data mining
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journal
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May 2002 |
Analysis of protein sequence and interaction data for candidate disease gene prediction
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journal
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October 2006 |
A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
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journal
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October 2012 |
The Characterization of Twenty Sequenced Human Genomes
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journal
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September 2010 |
Predicting disease genes using protein-protein interactions
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journal
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August 2006 |
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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journal
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November 2012 |
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
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journal
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September 2012 |
Jannovar: A Java Library for Exome Annotation
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journal
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April 2014 |
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
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journal
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April 2011 |
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
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journal
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October 2013 |
POCUS: mining genomic sequence annotation to predict disease genes
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journal
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January 2003 |
A method and server for predicting damaging missense mutations
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journal
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April 2010 |
A probabilistic disease-gene finder for personal genomes
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journal
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June 2011 |
A general framework for estimating the relative pathogenicity of human genetic variants
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journal
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February 2014 |
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
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journal
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May 2012 |
Exome Sequencing to Identify Novel Genes in Hypertension
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journal
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April 2012 |
A Mutation in the Thyroid Hormone Receptor Alpha Gene
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journal
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January 2012 |
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
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journal
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October 2013 |
The WEKA data mining software: an update
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journal
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November 2009 |
Analysis of protein-protein interaction networks using random walks
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conference
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August 2005 |
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics
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journal
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January 2012 |