FLAGS, frequently mutated genes in public exomes

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

(2014) Clara D. van Karnebeek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CHARGE and Kabuki syndromes: a phenotypic and molecular link

(2014) Yvonne Schulz et al.   HUMAN MOLECULAR GENETICS

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

Computational Disease Gene Prioritization: An Appraisal

(2014) Nivit Gill et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

(2014) Chong Kun Cheon et al.   JOURNAL OF HUMAN GENETICS

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

(2014) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

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

The European Union Policy in the Field of Rare Diseases

(2014) A. Montserrat Moliner et al.   Public Health Genomics

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature

(2013) R. Xu et al.   BIOINFORMATICS

Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity

(2013) Warren A Cheung et al.   BMC Medical Genomics

A survey of tools for variant analysis of next-generation genome sequencing data

(2013) S. Pabinger et al.   BRIEFINGS IN BIOINFORMATICS

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools

(2013) S. Castellana et al.   BRIEFINGS IN BIOINFORMATICS

PhyloTreePruner: A Phylogenetic Tree-Based Approach for selection of Orthologous sequences for phylogenomics

(2013) Kevin M. Kocot et al.   Evolutionary Bioinformatics

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Molecular mechanisms of paralogous compensation and the robustness of cellular networks

(2013) Guillaume Diss et al.   JOURNAL OF EXPERIMENTAL ZOOLOGY PART B-MOLECULAR AND DEVELOPMENTAL EVOLUTION

A literature search tool for intelligent extraction of disease-associated genes

(2013) Jae-Yoon Jung et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Human Monogenic Disease Genes Have Frequently Functionally Redundant Paralogs

(2013) Wei-Hua Chen et al.   PLoS Computational Biology

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

(2012) Johann Böhm et al.   ACTA NEUROPATHOLOGICA

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Mutation of HERC2 causes developmental delay with Angelman-like features

(2012) Gaurav V Harlalka et al.   JOURNAL OF MEDICAL GENETICS

SUMO-Specific Protease 1 Is Critical for Early Lymphoid Development through Regulation of STAT5 Activation

(2012) Thang Van Nguyen et al.   MOLECULAR CELL

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

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Computational tools for prioritizing candidate genes: boosting disease gene discovery

(2012) Yves Moreau et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Genenames.org: the HGNC resources in 2013

(2012) Kristian A. Gray et al.   NUCLEIC ACIDS RESEARCH

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Saturation of the Human Phenome

(2010) Mark E. Samuels   CURRENT GENOMICS

One Hundred Years of Pleiotropy: A Retrospective

(2010) F. W. Stearns   GENETICS

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

(2010) David N. Cooper et al.   HUMAN MUTATION

SENP1-mediated GATA1 deSUMOylation is critical for definitive erythropoiesis

(2010) Luyang Yu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MetaPhOrs: orthology and paralogy predictions from multiple phylogenetic evidence using a consistency-based confidence score

(2010) Leszek P. Pryszcz et al.   NUCLEIC ACIDS RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A navigator for human genome epidemiology

(2008) Wei Yu et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS