Matthew Mort

17.7k total citations · 8 hit papers
79 papers, 9.1k citations indexed

About

Matthew Mort is a scholar working on Molecular Biology, Genetics and Cancer Research. According to data from OpenAlex, Matthew Mort has authored 79 papers receiving a total of 9.1k indexed citations (citations by other indexed papers that have themselves been cited), including 59 papers in Molecular Biology, 43 papers in Genetics and 7 papers in Cancer Research. Recurrent topics in Matthew Mort's work include Genomics and Rare Diseases (37 papers), RNA and protein synthesis mechanisms (24 papers) and RNA modifications and cancer (22 papers). Matthew Mort is often cited by papers focused on Genomics and Rare Diseases (37 papers), RNA and protein synthesis mechanisms (24 papers) and RNA modifications and cancer (22 papers). Matthew Mort collaborates with scholars based in United Kingdom, United States and China. Matthew Mort's co-authors include D.N. Cooper, Edward V. Ball, Peter D. Stenson, Andrew D. Phillips, Nick Thomas, Michael Krawczak, Katy Shaw, Sean D. Mooney, Predrag Radivojac and Shaun S. Abeysinghe and has published in prestigious journals such as Nucleic Acids Research, Nature Communications and Nature Genetics.

In The Last Decade

Matthew Mort

76 papers receiving 9.0k citations

Hit Papers

Human Gene Mutation Database (HGMD®): 2003 update 2003 2026 2010 2018 2003 2013 2017 2009 2009 400 800 1.2k
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. Human Gene Mutation Database (HGMD®): 2003 update
    2003 1.4k citations Peter D. Stenson, Edward V. Ball et al. Human Mutation profile →
  2. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    2013 955 citations Peter D. Stenson, Matthew Mort et al. Human Genetics profile →
  3. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
    2017 921 citations Peter D. Stenson, Matthew Mort et al. Human Genetics profile →
  4. The Human Gene Mutation Database: 2008 update
    2009 630 citations Peter D. Stenson, Matthew Mort et al. profile →
  5. Automated inference of molecular mechanisms of disease from amino acid substitutions
    2009 623 citations Biao Li, Vidhya G. Krishnan et al. Bioinformatics profile →
  6. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
    2020 426 citations Vikas Pejaver, Jorge Urresti et al. Nature Communications profile →
  7. An integrative approach to predicting the functional effects of non-coding and coding sequence variation
    2015 426 citations Matthew Mort, D.N. Cooper et al. Bioinformatics profile →
  8. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
    2020 410 citations Peter D. Stenson, Matthew Mort et al. Human Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Matthew Mort United Kingdom 33 6.1k 3.5k 964 586 536 79 9.1k
Peter D. Stenson United Kingdom 35 5.7k 0.9× 4.0k 1.1× 1.1k 1.1× 481 0.8× 457 0.9× 63 8.9k
Norma J. Nowak United States 41 5.1k 0.8× 2.6k 0.7× 1.3k 1.3× 291 0.5× 571 1.1× 140 8.4k
Edward V. Ball United Kingdom 17 3.8k 0.6× 2.4k 0.7× 558 0.6× 399 0.7× 351 0.7× 23 5.9k
Kym M. Boycott Canada 42 3.8k 0.6× 2.9k 0.8× 559 0.6× 360 0.6× 453 0.8× 208 6.5k
Paul Hasty United States 41 6.6k 1.1× 1.8k 0.5× 1.1k 1.1× 869 1.5× 498 0.9× 107 8.1k
Keith A. Ching United States 24 6.6k 1.1× 1.4k 0.4× 989 1.0× 338 0.6× 390 0.7× 45 8.8k
Denise Horn Germany 37 3.9k 0.6× 3.0k 0.9× 351 0.4× 359 0.6× 470 0.9× 134 6.1k
Christophe Béroud France 41 4.2k 0.7× 1.7k 0.5× 1.4k 1.5× 347 0.6× 362 0.7× 117 7.2k
Baoli Yang United States 39 3.9k 0.6× 1.4k 0.4× 376 0.4× 610 1.0× 670 1.3× 84 6.1k
Bernhard Schermer Germany 42 4.0k 0.6× 2.2k 0.6× 426 0.4× 454 0.8× 970 1.8× 126 6.0k

Countries citing papers authored by Matthew Mort

Since Specialization
Citations

This map shows the geographic impact of Matthew Mort's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Matthew Mort with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Matthew Mort more than expected).

Fields of papers citing papers by Matthew Mort

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Matthew Mort. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Matthew Mort. The network helps show where Matthew Mort may publish in the future.

Co-authorship network of co-authors of Matthew Mort

This figure shows the co-authorship network connecting the top 25 collaborators of Matthew Mort. A scholar is included among the top collaborators of Matthew Mort based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Matthew Mort. Matthew Mort is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Stein, David, Matthew Mort, Peter D. Stenson, et al.. (2025). Expanding the utility of variant effect predictions with phenotype-specific models. Nature Communications. 16(1). 11113–11113.
2.
Duffy, Áine, David Stein, Joshua K. Park, et al.. (2025). Development of a genetic priority score to predict drug side effects using human genetic evidence. Nature Communications. 16(1). 8713–8713.
3.
Duffy, Áine, Ben Omega Petrazzini, David Stein, et al.. (2024). Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. Nature Genetics. 56(1). 51–59. 11 indexed citations
4.
Fan, Cong, Ken Chen, Yukai Wang, et al.. (2022). Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections. Human Genetics. 142(2). 245–274.
5.
Pejaver, Vikas, Jorge Urresti, Jose Lugo-Martinez, et al.. (2020). Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nature Communications. 11(1). 5918–5918. 426 indexed citations breakdown →
6.
Fragoza, Robert, Jishnu Das, Shayne D. Wierbowski, et al.. (2019). Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nature Communications. 10(1). 4141–4141. 45 indexed citations
7.
Lin, Hai, Jill L. Reiter, Yue Wang, et al.. (2019). RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. Genome biology. 20(1). 254–254. 41 indexed citations
8.
Ismail, Wazim Mohammed, Kymberleigh A. Pagel, Vikas Pejaver, et al.. (2018). The sequencing and interpretation of the genome obtained from a Serbian individual. ORCA Online Research @Cardiff (Cardiff University). 3 indexed citations
9.
Stenson, Peter D., Matthew Mort, Edward V. Ball, et al.. (2017). 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. 136(6). 665–677. 921 indexed citations breakdown →
10.
Thomas, Laura E., Kevin E. Ashelford, Matthew Mort, et al.. (2017). Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH -associated Polyposis. Clinical Cancer Research. 23(21). 6721–6732. 19 indexed citations
11.
Li, Meng, Weixing Feng, Xinjun Zhang, et al.. (2017). ExonImpact: Prioritizing Pathogenic Alternative Splicing Events. Queensland's institutional digital repository (The University of Queensland). 2 indexed citations
12.
Liu, Tianyun, Wen Torng, Aleix Lafita, et al.. (2017). Biological and functional relevance of CASP predictions. Proteins Structure Function and Bioinformatics. 86(S1). 374–386. 8 indexed citations
13.
Zhao, Huiying, Yuedong Yang, Yutong Lu, et al.. (2017). Quantitative mapping of genetic similarity in human heritable diseases by shared mutations. Human Mutation. 39(2). 292–301. 4 indexed citations
14.
Wei, Xiaomu, Jishnu Das, Robert Fragoza, et al.. (2014). A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations. PLoS Genetics. 10(12). e1004819–e1004819. 37 indexed citations
15.
Mort, Matthew, et al.. (2014). Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. European Journal of Human Genetics. 23(1). 67–71. 17 indexed citations
16.
Thomas, Laura E., Gill Spurlock, Matthew Mort, et al.. (2011). Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics. 20(4). 411–419. 22 indexed citations
17.
Cooper, D.N., Jian‐Min Chen, Edward V. Ball, et al.. (2010). Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation. 31(6). 631–655. 119 indexed citations
18.
Cooper, D.N. & Matthew Mort. (2010). Do Inherited Disease Genes Have Distinguishing Functional Characteristics?. Genetic Testing and Molecular Biomarkers. 14(3). 289–291. 3 indexed citations
19.
Cooper, D.N., Edward V. Ball, & Matthew Mort. (2010). Chromosomal Distribution of Disease Genes in the Human Genome. Genetic Testing and Molecular Biomarkers. 14(4). 441–446. 3 indexed citations
20.
Li, Biao, Vidhya G. Krishnan, Matthew Mort, et al.. (2009). Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics. 25(21). 2744–2750. 623 indexed citations breakdown →

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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