Author details

Full Name

Matthew Mort

Affiliation

ORCID

Career Start Year

1990

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36344696	Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.	Hum Genet	2023
33300026	Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin.	Nucleic Acids Res	2021
33468550	A platform for curated products from novel open reading frames prompts reinterpretation of disease variants.	Genome Res	2021
31383941	APC transcription studies and molecular diagnosis of familial adenomatous polyposis.	European Journal of Human Genetics	2020
32463623	Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.	Clinical and Translational Gastroenterology	2020
32596782	The Human Gene Mutation Database (HGMD<sup>Â®</sup>): optimizing its use in a clinical diagnostic or research setting.	Hum Genet	2020
33219223	Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.	Nat Commun	2020
33113372	Developmental Gene Expression Differences between Humans and Mammalian Models.	Cell Rep	2020
31515488	Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.	Nat Commun	2019
31779641	RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.	Genome Biol	2019
31131953	First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.	Hum Mutat	2019
31199787	Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.	PLoS Comput Biol	2019
31243369	Gene expression across mammalian organ development.	Nature	2019
29702101	The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.	Gastrointestinal Endoscopy	2018
28975675	Biological and functional relevance of CASP predictions.	Proteins	2018
28968714	FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.	Bioinformatics	2018
29044887	Quantitative mapping of genetic similarity in human heritable diseases by shared mutations.	Hum Mutat	2018
30305043	Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.	BMC Med Genet	2018
30566479	The sequencing and interpretation of the genome obtained from a Serbian individual.	PLoS One	2018
28100260	iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations.	Genome Biol	2017
28391525	regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.	Hum Genet	2017
28349240	The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.	Hum Genet	2017
28422189	Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.	Scientific Reports	2017
28985712	An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.	BMC Bioinformatics	2017
28882004	When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.	Bioinformatics	2017
28790112	Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and -associated Polyposis.	Clinical Cancer Research	2017
28649752	Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.	Hum Mutat	2017
27604408	ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.	Hum Mutat	2017
28180317	IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants.	Nucleic Acids Res	2017
27589961	Overview of the interactive task in BioCreative V.	Database (Oxford)	2016
26841357	mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome.	Hum Mutat	2016
27278817	Mining clinical attributes of genomic variants through assisted literature curation in Egas.	Database (Oxford)	2016
27406314	Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.	Hum Mutat	2016
27703146	Improving the in silico assessment of pathogenicity for compensated variants.	Eur J Hum Genet	2016
27564311	The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.	PLoS Comput Biol	2016
24755953	Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.	European Journal of Human Genetics	2015
25884485	Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.	Hum Genomics	2015
25583119	An integrative approach to predicting the functional effects of non-coding and coding sequence variation.	Bioinformatics	2015
25573915	DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.	Bioinformatics	2015
26397897	Huntingtin Exists as Multiple Splice Forms in Human Brain.	Journal of Huntington's disease	2015
24599843	Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.	Hum Mutat	2014
25502805	A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.	PLoS Genet	2014
24451234	MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.	Genome Biol	2014
24077912	The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.	Hum Genet	2014
24389360	Identification of novel alternative splicing events in the huntingtin gene and assessment of the functional consequences using structural protein homology modelling.	Journal of Molecular Biology	2014
24436305	Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.	Hum Mol Genet	2014
24980617	Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.	Hum Genomics	2014
23497682	DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels.	Genome Biol	2013
22641181	A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.	Mol Psychiatry	2013
22108604	Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.	Eur J Hum Genet	2012