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MutationTaster2: mutation prediction for the deep-sequencing age

Nature methods, 2014-04, Vol.11 (4), p.361

2014

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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Human genetics, 2017-06, Vol.136 (6), p.665-677

2017

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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Human genetics, 2020-10, Vol.139 (10), p.1197-1207

2020

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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Nature genetics, 2016-12, Vol.48 (12), p.1581-1586

2016

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An integrative approach to predicting the functional effects of non-coding and coding sequence variation

Bioinformatics, 2015-05, Vol.31 (10), p.1536-1543

2015

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FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

Bioinformatics, 2018-02, Vol.34 (3), p.511-513

2018

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Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Human genetics, 2022-02, Vol.141 (2), p.177-191

2022

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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Nature communications, 2020-11, Vol.11 (1), p.5918-13, Article 5918

2020

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Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

Human genomics, 2010-06, Vol.4 (5), p.284-288

Cooper, David N

2010

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

Human genetics, 2014-01, Vol.133 (1), p.1-9

2014

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

Human mutation, 2013-01, Vol.34 (1), p.57-65

2013

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The NF1 somatic mutational landscape in sporadic human cancers

Human genomics, 2017-06, Vol.11 (1), p.13-13, Article 13

2017

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Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

American journal of human genetics, 2012-12, Vol.91 (6), p.1022-1032

2012

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The mutation significance cutoff: gene-level thresholds for variant predictions

Nature methods, 2016-02, Vol.13 (2), p.109

2016

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Predicting the functional consequences of cancer-associated amino acid substitutions

Bioinformatics, 2013-06, Vol.29 (12), p.1504-1510

2013

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Automated inference of molecular mechanisms of disease from amino acid substitutions

Bioinformatics, 2009-11, Vol.25 (21), p.2744-2750

2009

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

Human mutation, 2015-05, Vol.36 (5), p.513-523

2015

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A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

PloS one, 2013-08, Vol.8 (8), p.e73522-e73522

2013

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Gene conversion: mechanisms, evolution and human disease

Nature reviews. Genetics, 2007-10, Vol.8 (10), p.762-775

2007

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Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Science (American Association for the Advancement of Science), 2015-04, Vol.348 (6231), p.242-245

2015

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Exome sequencing: Dual role as a discovery and diagnostic tool

Annals of neurology, 2012-01, Vol.71 (1), p.5-14

2012

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Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization

NeuroImage (Orlando, Fla.), 2023-10, Vol.279, p.120325-120325, Article 120325

2023

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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

American journal of human genetics, 2022-03, Vol.109 (3), p.457-470

2022

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The genetic structure of the Turkish population reveals high levels of variation and admixture

Proceedings of the National Academy of Sciences - PNAS, 2021-09, Vol.118 (36)

2021

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Loss of exon identity is a common mechanism of human inherited disease

Genome research, 2011-10, Vol.21 (10), p.1563

2011

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MutationTaster2: mutation prediction for the deep-sequencing age

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

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

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

The NF1 somatic mutational landscape in sporadic human cancers

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

The mutation significance cutoff: gene-level thresholds for variant predictions

Predicting the functional consequences of cancer-associated amino acid substitutions

Automated inference of molecular mechanisms of disease from amino acid substitutions

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

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

Gene conversion: mechanisms, evolution and human disease

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Exome sequencing: Dual role as a discovery and diagnostic tool

Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

The genetic structure of the Turkish population reveals high levels of variation and admixture

Loss of exon identity is a common mechanism of human inherited disease

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