Peter D. Stenson

52.1k citations

63 papers · 8.9k indexed · 7 hit papers · h-index 35

Impact in

Genetics top 0.2%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
Molecular Biology top 1%
- RNA and protein synthesis mechanisms
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Bioinformatics and Genomic Networks

Papers in

Genetics 46
- Genomics and Rare Diseases 39
- Genomic variations and chromosomal abnormalities 19
- Genetic Associations and Epidemiology 7
Cancer Research 14
- Cancer Genomics and Diagnostics 14

Co-authors: D.N. Cooper Edward V. Ball Matthew Mort Andrew D. Phillips Nick Thomas Michael Krawczak Katy Shaw Shaun S. Abeysinghe
Journals: Human Mutation (17 papers)Human Genetics (10 papers)The American Journal of Human Genetics (5 papers)Proceedings of the National Academy of Sciences (4 papers)Genome Medicine (4 papers)
Partner nations: United Kingdom United States France

In The Last Decade

Peter D. Stenson

61 papers receiving 8.8k citations

Hit Papers

7 papers align trajectories log scale

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting 2020 · 410 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2020 Human Genetics
2017 Human Genetics
2016 Nature Genetics
2013 Human Genetics
2012 Human Mutation
2009 Genome Medicine
2003 Human Mutation

Peers

Countries citing papers authored by Peter D. Stenson

Since Specialization

Citations

This map shows the geographic impact of Peter D. Stenson'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 Peter D. Stenson with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Peter D. Stenson more than expected).

Fields of papers citing papers by Peter D. Stenson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Peter D. Stenson. 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 Peter D. Stenson. The network helps show where Peter D. Stenson may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Peter D. Stenson, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Peter D. Stenson Line = papers co-authored together Peter D. Stenson links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Expanding the utility of variant effect predictions with phenotype-specific models Nature Communications ·David Stein, Gloria Evdoxia Izountouemoi, N L Zhulimova, Matthew Mort, Peter D. Stenson, Jean‐Laurent Casanova, D.N. Cooper, Bertrand Boisson, Peng Zhang, Avner Schlessinger, Yuval Itan	2025	0
2	Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework EBioMedicine ·和幸前之園, Ling Li, Laura E. Sokil, Shu-Xiang, Shaoying Li, J. Kühnau, Cong Fan, Ryan Roark, Meng Meng, Lauw Li Hin, Matthew Mort, Peter D. Stenson, D.N. Cooper, Huiying Zhao	2024	2
3	Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites Proceedings of the National Academy of Sciences ·Peng Zhang, Yi-Jing Juan, Masato Ogishi, Wha Ann Jong, Alexander Ulyanov, Matthias Heizenröther, Darawan Rinchai, N L Zhulimova, Ji Eun Han, Marcela Moncada‐Vélez, Sevgi Keleş, Bernd Schröder, Peter D. Stenson, D.N. Cooper, Aurélie Cobat, Bertrand Boisson, Qian Zhang, Stéphanie Boisson‐Dupuis, Laurent Abel, Jean‐Laurent Casanova	2023	6
4	Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set Genome Medicine ·David Stein, Gloria Evdoxia Izountouemoi, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan	2023	18
5	Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections Human Genetics ·Cong Fan, Ken Chen, Yukai Wang, Edward V. Ball, Peter D. Stenson, Matthew Mort, Albino Bacolla, Hildegard Kehrer‐Sawatzki, John A. Tainer, D.N. Cooper, Huiying Zhao	2022	0
6	Genome-wide detection of human variants that disrupt intronic branchpoints Proceedings of the National Academy of Sciences ·Peng Zhang, Quentin Philippot, Weicheng Ren, Wei‐Te Lei, Juan Li, Peter D. Stenson, Pere Soler‐Palacín, Roger Colobrán, Bertrand Boisson, Shen‐Ying Zhang, Anne Puel, Qiang Pan‐Hammarström, Qian Zhang, D.N. Cooper, Laurent Abel, Jean‐Laurent Casanova	2022	23
7	Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans Human Genetics ·Yiming Wu, Çiğdem Sevim Bayrak, Frank Pontes Moura, Shixu He, Peter D. Stenson, D.N. Cooper, Yuval Itan, Lei Chen	2022	2
8	Distinct sequence features underlie microdeletions and gross deletions in the human genome Human Mutation ·Ryan Roark, Peter D. Stenson, Edward V. Ball, John A. Tainer, Albino Bacolla, Hildegard Kehrer‐Sawatzki, D.N. Cooper, Huiying Zhao	2021	5
9	The genetic structure of the Turkish population reveals high levels of variation and admixture Proceedings of the National Academy of Sciences ·Gloria Evdoxia Izountouemoi, A. Nazlı Başak, Onur Emre Onat, Kaya Bilgüvar, Jungmin Choi, Yuval Itan, Caner Çağlar, 俊雄刀禰, Jean‐Laurent Casanova, D.N. Cooper, Peter D. Stenson, Alper Yavuz, Hakan Buluş, Murat Günel, Jeffrey M. Friedman, Tayfun Özçelık	2021	47
10	Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes Proceedings of the National Academy of Sciences ·Antonio Rausell, أ.د. سعد حسن كاظم, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, DP Kaiser, Peter D. Stenson, D.N. Cooper, Étienne Patin, Jean‐Laurent Casanova, Lluís Quintana‐Murci, Laurent Abel	2020	17
11	AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature Science Translational Medicine ·Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Ethan Steinberg, Karthik A. Jagadeesh, Alexander Ratner, Harendra Guturu, Aaron M. Wenger, Mark Diekhans, Peter D. Stenson, D.N. Cooper, Christopher Ré, Alan H. Beggs, Jonathan A. Bernstein, Gill Bejerano	2020	56
12	Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations Nature Communications ·Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Y. T. Li, Siqi Liang, Juan Felipe Beltrán, María R. Tovar-Sanz, Kaixiong Ye, Ting‐Yi Wang, Yao Li, Matthew Mort, Peter D. Stenson, D.N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu	2019	45
13	SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data Nucleic Acids Research ·Peng Zhang, Bertrand Boisson, Peter D. Stenson, D.N. Cooper, Jean‐Laurent Casanova, Laurent Abel, Yuval Itan	2019	11
14	AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature Genetics in Medicine ·Johannes Birgmeier, Cole A. Deisseroth, F Chen, KATSUHIKO NUMATA, Armila Latifha, Karthik A. Jagadeesh, Peter D. Stenson, D.N. Cooper, Jonathan A. Bernstein, Maximilian Haeussler, Gill Bejerano	2019	16
15	Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations The American Journal of Human Genetics ·Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N. Singh, eleni dimakopoulou, Carmen C. Brewer, Brian P. Brooks, Isaac Brownell, Fabio Candotti, Stephen G. Gonsalves, TJ Wilke, Heidi H. Kong, Kristina I. Rother, Robert Sokolic, Benjamin D. Solomon, Wadih M. Zein, D.N. Cooper, Peter D. Stenson, James C. Mullikin, Leslie G. Biesecker	2015	43
16	A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations PLoS Genetics ·Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco Meirelles Bastos de Oliveira, 이광주, Xiujuan Wang, Matthew Mort, Peter D. Stenson, D.N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu	2014	37
17	The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine Human Genetics ·Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper Hit paper breakdown →	2013	955
18	Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing The American Journal of Human Genetics ·Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, Peter D. Stenson, D.N. Cooper, Chris Tyler‐Smith	2012	188
19	Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes Human Mutation ·Dobril Ivanov, Stephen E. Hamby, Peter D. Stenson, Л. А. Дубровина, Sergio Hernán González, D.N. Cooper, Nadia Chuzhanova	2011	8
20	Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci Human Mutation ·Emily Delmotte, Jian‐Min Chen, Nadia Chuzhanova, Caroline Bénech, Teresa Casals, Milan Maçek, Thierry Bienvenu, Trudi McDevitt, Philip M. Farrell, Alexandra P. Foster, Taïeb Messaoud, Harry Cuppens, Garry R. Cutting, Peter D. Stenson, А. Н. Бирюков, Marie‐Pierre Audrézet, D.N. Cooper, Claude Férec	2010	23

About Peter D. Stenson

Peter D. Stenson is a scholar working on Genetics, Cancer Research, Molecular Biology, Plant Science and Cellular and Molecular Neuroscience, having authored 63 papers that have together received 8.9k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (39 papers), Genomic variations and chromosomal abnormalities (19 papers), Cancer Genomics and Diagnostics (14 papers), RNA and protein synthesis mechanisms (12 papers), RNA modifications and cancer (10 papers), Genomics and Phylogenetic Studies (8 papers), Genetic Associations and Epidemiology (7 papers) and Bioinformatics and Genomic Networks (6 papers). The work is most often cited by research in Genetics (4.0k citations), Molecular Biology (5.7k citations), Cancer Research (1.1k citations), Clinical Biochemistry (287 citations) and Genetics (366 citations). Peter D. Stenson has collaborated with scholars based in United Kingdom, United States and France. Frequent co-authors include D.N. Cooper, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Nick Thomas, Michael Krawczak, Katy Shaw, Shaun S. Abeysinghe, Matthew Hayden and Sally Heywood. Their work appears in journals such as Human Mutation, Human Genetics, The American Journal of Human Genetics, Proceedings of the National Academy of Sciences and Genome Medicine.

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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