Damian Smedley

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

20.1Author DataRank

Indexed papers

19in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 19 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

The Human Phenotype Ontology in 2021

Nucleic Acids Research(2020)10.1093/nar/gkaa1043

Top 3%

7.0DataRank

Top 3%1255 citations

Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis‐Smith, Nicole A. Vasilevsky +46 more

Papers

Driven by 65 papers — median percentile 49. Top paper: “Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli”.

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

Nature(2020)10.1038/s41586-020-2080-8

N/A

8.3DataRank · unranked

1184 citations

Jens Puschhof, Axel Rosendahl Huber, Arne van Hoeck, Henry M. Wood, Jason Nomburg +95 more

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Nature Genetics(2022)10.1038/s41588-022-01233-6

N/A

7.7DataRank · unranked

721 citations

Tao Jiang, Anuj Goel, Stavroula Kanoni, Brooke N. Wolford, Deepak Atri +92 more

The Human Phenotype Ontology in 2021

Nucleic Acids Research(2020)10.1093/nar/gkaa1043

Top 3%

7.0DataRank

Top 3%1255 citations

Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis‐Smith, Nicole A. Vasilevsky +46 more

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Nucleic Acids Research(2022)10.1093/nar/gkac972

Top 5%

4.6DataRank

Top 5%457 citations

Federico López, Hamed Mashhadi, Violeta Muñoz‐Fuentes, Osman Güneş, Robert Wilson +12 more

Towards BioDBcore: a community-defined information specification for biological databases

Nucleic Acids Research(2010)10.1093/nar/gkq1173

N/A

3.1DataRank · unranked

40 citations

Amos Bairoch, Dawn Field, Chris Taylor, Teresa K. Attwood, Alex Bateman +34 more

Mondo: Unifying diseases for the world, by the world

medRxiv(2022)10.1101/2022.04.13.22273750

Top 8%

2.7DataRank

Top 8%104 citations

Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni +83 more

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology(2022)10.1038/s41587-022-01357-4

N/A

2.4DataRank · unranked

111 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske +62 more

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

Nucleic Acids Research(2023)10.1093/nar/gkad1082

Top 14%

1.5DataRank

Top 14%106 citations

Kevin Schaper, Nicolas A Matentzoglu, Vincent Rubinetti, Faisal Alquaddoomi, Corey Cox +39 more

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

Human and mouse essentiality screens as a resource for disease gene discovery

Nature Communications(2020)10.1038/s41467-020-14284-2

N/A

0.730DataRank · unranked

129 citations

Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter +95 more

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

medRxiv(2021)10.1101/2021.11.27.21266944

N/A

0.631DataRank · unranked

14 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan +42 more

The Ontology of Biological Attributes (OBA)—computational traits for the life sciences

Mammalian Genome(2023)10.1007/s00335-023-09992-1

Top 33%

0.596DataRank

Top 33%21 citations

James P. Balhoff, Meghan A. Balk, Robyn L. Ball, Susan M. Bello, Anita R. Caron +21 more

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

Scientific Reports(2022)10.1038/s41598-022-19710-7

Top 36%

0.540DataRank

Top 36%11 citations

Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken +40 more

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w

N/A

0.515DataRank · unranked

18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Computational identification of disease models through cross-species phenotype comparison

Disease Models & Mechanisms(2024)10.1242/dmm.050604

Top 38%

0.509DataRank

Top 38%9 citations

Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Güneş +2 more

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100371

Top 39%

0.489DataRank

Top 39%12 citations

Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C Carmody +30 more

Efficient reinterpretation of rare disease cases using Exomiser

npj Genomic Medicine(2024)10.1038/s41525-024-00456-2

N/A

0.457DataRank · unranked

20 citations

Julius O.B. Jacobsen, Susan Walker, Valentina Cipriani, Nomi L. Harris, Melissa A Haendel +4 more

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics

Genetics(2025)10.1093/genetics/iyaf027

Top 45%

0.406DataRank

Top 45%10 citations

Susan M. Bello, Ray Stefancsik, Sarah M. Alghamdi, Anna V. Anagnostopoulos, James P. Balhoff +41 more

Essential genes: a cross-species perspective

Mammalian Genome(2023)10.1007/s00335-023-09984-1

N/A

0.360DataRank · unranked

10 citations

Damian Smedley, Pilar Cacheiro

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

medRxiv(2024)10.1101/2024.05.29.24308104

Top 51%

0.345DataRank

Top 51%9 citations

Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica X. Chong +27 more

International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease

Nucleic Acids Research(2025)10.1093/nar/gkaf1148

Top 51%

0.344DataRank

Top 51%7 citations

Tuğba Bülbül Ataç, Tsz Kwan Cheng, Anthony Frost, Osman Güneş, Marina Kan +15 more

Lethal phenotypes in Mendelian disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101141

Top 56%

0.287DataRank

Top 56%5 citations

Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray +4 more

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

BMC Bioinformatics(2025)10.1186/s12859-025-06105-4

N/A

0.269DataRank · unranked

5 citations

Vinícius de Souza, Katherina G Cortes, Melissa A Haendel, Nomi L. Harris, Daniel Korn +10 more

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.26.525742

Top 59%

0.254DataRank

Top 59%3 citations

James P. Balhoff, Meghan A. Balk, Robyn L. Ball, Susan M. Bello, Anita R. Caron +21 more

IMPC impact on preclinical mouse models

Mammalian Genome(2025)10.1007/s00335-025-10104-4

Top 61%

0.241DataRank

Top 61%4 citations

Pilar Cacheiro, Damian Smedley, K. C. Kent Lloyd, Sabine M. Hölter

Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function

Bioinformatics Advances(2021)10.1093/bioadv/vbab026

Top 65%

0.203DataRank

Top 65%2 citations

Letizia Vestito, Damian Smedley, Tomasz Konopka

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization

Genetics in Medicine(2024)10.1016/j.gim.2024.101292

N/A

0.165DataRank · unranked

2 citations

Daniel Daniš, Yasemin Bridges, Julius O.B. Jacobsen, Damian Smedley, Peter N. Robinson +1 more

Development of self-phenotyping tools to empower patients and improve diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105965

Top 71%

0.124DataRank

Top 71%1 citations

Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein, Erin Rooney Riggs +10 more

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294

N/A

0DataRank · unranked

3 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Improving prenatal diagnosis through standards and aggregation

Prenatal Diagnosis(2024)10.1002/pd.6522

N/A

0DataRank · unranked

10 citations

Pilar Cacheiro, Julius O.B. Jacobsen, Jessica L. Giordano, Harrison Brand, Ronald J. Wapner +4 more

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

medRxiv(2024)10.1101/2024.07.22.24310816

N/A

0DataRank · unranked

9 citations

Leonardo Chimirri, Yasemin Bridges, Daniel Daniš, J. Harry Caufield, Michael Gargano +16 more

CurateGPT: A flexible language-model assisted biocuration tool

arXiv (Cornell University)(2024)10.48550/arxiv.2411.00046

N/A

0DataRank · unranked

8 citations

Carlo Kroll, Shawn T. O’Neil, Justin T Reese, Marcin P. Joachimiak, Harshad Hegde +8 more

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.13.598672

N/A

0DataRank · unranked

5 citations

Vinícius de Souza, Katherina G Cortes, Melissa A Haendel, Nomi L. Harris, Daniel Korn +10 more

Lethal phenotypes in Mendelian disorders

medRxiv(2024)10.1101/2024.01.12.24301168

N/A

0DataRank · unranked

2 citations

Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray +4 more

Mondo: integrating disease terminology across communities

Genetics(2025)10.1093/genetics/iyaf215

N/A

0DataRank · unranked

16 citations

Sabrina Toro, Nicolas A Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde +95 more

The spectrum of gene intolerance to variation: Insights from a rare disease cohort

medRxiv(2025)10.1101/2025.01.28.25321201

N/A

0DataRank · unranked

2 citations

Gabriel Marengo, David U. Gorkin, Kevin A. Peterson, Yonina Loskove, Stephen A. Murray +2 more

The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort

medRxiv(2025)10.1101/2025.02.06.25321804

Top 100%

0DataRank

Top 100%0 citations

Damian Smedley, Valentina Cipriani, Gudrun E. Moore, Philip Stanier, Michael R. Bowl +4 more

International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.10.09.681205

Top 100%

0DataRank

Top 100%0 citations

Tuğba Bülbül Ataç, Tsz Kwan Cheng, Anthony Frost, Osman Güneş, Marina Kan +15 more

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.021

N/A

0DataRank · unranked

113 citations

Vida Ravanmehr, Julius O.B. Jacobsen, Daniel Daniš, Xingmin Aaron Zhang, Leigh C Carmody +10 more

OpenStats: A robust and scalable software package for reproducible analysis of high-throughput phenotypic data

PLoS ONE(2020)10.1371/journal.pone.0242933

N/A

0DataRank · unranked

21 citations

Jeremy Mason, Ann‐Marie Mallon, Damian Smedley, Terrence F. Meehan, Helen Parkinson +1 more

High-throughput discovery of genetic determinants of circadian misalignment

PLoS Genetics(2020)10.1371/journal.pgen.1008577

N/A

0DataRank · unranked

20 citations

Pancheng Xie, Yingying Dong, Zhiwei Liu, Fei Zhou, Dejing Pan +32 more

Incremental data integration for tracking genotype-disease associations

PLoS Computational Biology(2020)10.1371/journal.pcbi.1007586

N/A

0DataRank · unranked

8 citations

Damian Smedley, Tomasz Konopka

The Deep Genome Project

Genome biology(2020)10.1186/s13059-020-1931-9

N/A

0DataRank · unranked

44 citations

David J. Adams, Gareth Baynam, Arthur L. Beaudet, Fátima Bosch, Kym M. Boycott +39 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

OpenStats: A Robust and Scalable Software Package for Reproducible Analysis of High-Throughput Phenotypic Data

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.13.091157

N/A

0DataRank · unranked

2 citations

Jeremy Mason, Ann‐Marie Mallon, Damian Smedley, Terrence F. Meehan, Helen Parkinson +1 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.014

N/A

0DataRank · unranked

67 citations

Julius O.B. Jacobsen, Leigh C Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde +5 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.014

N/A

0DataRank · unranked

15 citations

Julius O.B. Jacobsen, Leigh C Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde +5 more

Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen

Pain(2021)10.1097/j.pain.0000000000002481

N/A

0DataRank · unranked

11 citations

Emma Peterson, Ann M. Flenniken, Rasneer Sonia Bains, Surabi Veeraragavan, Lynette Bower +45 more

Diffusion enables integration of heterogeneous data and user-driven learning in a desktop knowledge-base

PLoS Computational Biology(2021)10.1371/journal.pcbi.1009283

N/A

0DataRank · unranked

4 citations

Sandra Ng, Damian Smedley, Tomasz Konopka

A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.25.465762

N/A

0DataRank · unranked

6 citations

Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless +16 more

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.14.452267

N/A

0DataRank · unranked

2 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

A pan-ontology view of machine-derived knowledge representations and feedback mechanisms for curation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.02.433532

N/A

0DataRank · unranked

1 citations

Damian Smedley, Tomasz Konopka

Dimensional reduction of phenotypes from 53,000 mouse models reveals a diverse landscape of gene function

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.10.447851

Top 100%

0DataRank

Top 100%0 citations

Letizia Vestito, Damian Smedley, Tomasz Konopka

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Science Advances(2022)10.1126/sciadv.abn2265

N/A

0DataRank · unranked

209 citations

Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless +16 more

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Human Mutation(2022)10.1002/humu.24380

N/A

0DataRank · unranked

75 citations

Catherine Kelly, Valentina Cipriani, Christopher J. Mungall, Justin T Reese, Daniel Daniš +3 more

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31989

N/A

0DataRank · unranked

52 citations

Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina +31 more

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Genome Medicine(2022)10.1186/s13073-022-01046-6

N/A

0DataRank · unranked

42 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Phenotype-aware prioritisation of rare Mendelian disease variants

Trends in Genetics(2022)10.1016/j.tig.2022.07.002

N/A

0DataRank · unranked

33 citations

Anita Szabó, Nikolas Pontikos, Gavin Arno, Peter N. Robinson, Julius O.B. Jacobsen +3 more

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

Briefings in Bioinformatics(2022)10.1093/bib/bbac188

N/A

0DataRank · unranked

15 citations

Catherine Kelly, Valentina Cipriani, Peter N. Robinson, Damian Smedley, Julius O.B. Jacobsen

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Genetics in Medicine(2022)10.1016/j.gim.2021.12.014

N/A

0DataRank · unranked

13 citations

Maria Toms, Rodrigo Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks +70 more

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

Genetics in Medicine(2022)10.1016/j.gim.2022.03.013

N/A

0DataRank · unranked

7 citations

Nour Gazzaz, Stephanie Huynh, Julia Handra, Lynn Warnock, Ashley Moller‐Hansen +15 more

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Brain(2023)10.1093/brain/awad240

N/A

0DataRank · unranked

72 citations

Stefania Magri, Riccardo Curró, Elena Abati, Stefano Facchini, Marinella Corbetta +95 more

Knockout mice are an important tool for human monogenic heart disease studies

Disease Models & Mechanisms(2023)10.1242/dmm.049770

N/A

0DataRank · unranked

8 citations

Nadine Spielmann, Hamed Mashhadi, Helmut Fuchs, Valérie Gailus‐Durner, Damian Smedley +2 more

Damian Smedley

Indexed papers

Top data-sharing exemplar

Papers