List of works - Matthew Mort

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations

scientific article

A meta-analysis of nonsense mutations causing human genetic disease

scientific article published in August 2008

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

scientific article published on 05 August 2019

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

scientific article published on 11 January 2015

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

scientific article

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

scientific article

Biological and functional relevance of CASP predictions.

scientific article

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

scientific article published on 8 August 2017

Chromosomal distribution of disease genes in the human genome

scientific article published on August 2010

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

scientific article

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.

scientific article published on 7 January 2015

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

scientific article

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

scientific article

Developmental Gene Expression Differences between Humans and Mammalian Models

scientific article published on 01 October 2020

Do inherited disease genes have distinguishing functional characteristics?

scientific article published in June 2010

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks

scientific article published on 07 April 2014

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

scientific article

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events

scientific article published on 8 September 2016

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

scientific article published on 23 November 2011

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

scientific article published on 12 September 2019

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

scientific article published on 5 September 2017

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

scientific article published on 24 June 2019

Gene expression across mammalian organ development

scientific article published on 26 June 2019

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

scientific article published on June 2010

Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin

scientific article published on 09 December 2020

Human Gene Mutation Database (HGMD): 2003 update

scientific article published in June 2003

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

scientific article

IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants

scientific article published on February 2017

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

scientific article

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

scientific article

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

scientific article

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

scientific article published in January 2006

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

scientific article

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

scientific article published on 20 November 2020

Insights into hominid evolution from the gorilla genome sequence

scientific article

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.

scientific article published on 25 June 2017

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

scientific article

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

scientific article published on August 2010

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

article

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

scientific article

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

scientific article published on 13 January 2014

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

scientific article published on 14 June 2019

Prediction of functional regulatory SNPs in monogenic and complex disease

scientific article published on 09 September 2011

Quantitative mapping of genetic similarity in human heritable diseases by shared mutations

scientific article published on 17 October 2017

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

scientific article

RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants

scientific article published on 28 November 2019

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants

scientific article published on 13 July 2016

Sequential data selection for predicting the pathogenic effects of sequence variation

scientific article published in November 2015

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

article

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

scientific article published in February 2007

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

scientific article

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

scientific article published in September 2012

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

scientific article published on 28 June 2020

The Human Gene Mutation Database: 2008 update ⬇️

scientific article published on 22 January 2009

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

scientific article

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

scientific article published on December 2009

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

scientific article

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

scientific article

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis

scientific article published on 24 April 2018

The sequencing and interpretation of the genome obtained from a Serbian individual

scientific article published in PLoS ONE

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

scientific article

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.

scientific article published in July 2017

iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations

scientific article published on 18 January 2017

mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome

scientific article published on 3 February 2016

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

scientific article

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

scientific article

List of works by Matthew Mort

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations

A meta-analysis of nonsense mutations causing human genetic disease

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

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

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Biological and functional relevance of CASP predictions.

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

Chromosomal distribution of disease genes in the human genome

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

Developmental Gene Expression Differences between Humans and Mammalian Models

Do inherited disease genes have distinguishing functional characteristics?

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

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

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

Gene expression across mammalian organ development

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

Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin

Human Gene Mutation Database (HGMD): 2003 update

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

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

Insights into hominid evolution from the gorilla genome sequence

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.

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

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Prediction of functional regulatory SNPs in monogenic and complex disease

Quantitative mapping of genetic similarity in human heritable diseases by shared mutations

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants

Sequential data selection for predicting the pathogenic effects of sequence variation

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

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

The Human Gene Mutation Database: 2008 update ⬇️

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

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

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

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis

The sequencing and interpretation of the genome obtained from a Serbian individual

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.

iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations

mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions