Ada Hamosh

Also affiliated with Johns Hopkins Medicine

Biochemistry, Genetics and Molecular BiologyMedicine

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

12.9Author DataRank

Indexed papers

8in 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 8 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.

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62407

Top 4%

4.9DataRank

Top 4%171 citations

Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen, Ada Hamosh

Papers

Driven by 24 papers — median percentile 76. Top paper: “GA4GH: International policies and standards for data sharing across genomic research and healthcare”.

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Cell Genomics(2021)10.1016/j.xgen.2021.100029

N/A

6.0DataRank · unranked

306 citations

Angela Page, Lindsay Smith, Jeremy Adams, Gil Alterovitz, Lawrence Babb +95 more

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62407

Top 4%

4.9DataRank

Top 4%171 citations

Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen, Ada Hamosh

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005

Top 6%

3.9DataRank

Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 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

Online Mendelian Inheritance In Man (OMIM)

Human Mutation(2000)10.1002/(sici)1098-1004(200001)15:1<57::aid-humu12>3.0.co;2-g

Top 19%

1.1DataRank

Top 19%1173 citations

Alan F. Scott, Joanna Amberger, David Valle, Victor A. McKusick, Ada Hamosh

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking

(2022)10.22541/au.164746810.06225040/v1

Top 28%

0.703DataRank

Top 28%14 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

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 Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

medRxiv(2022)10.1101/2022.01.03.21268593

Top 34%

0.575DataRank

Top 34%17 citations

Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin +41 more

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01916-z

N/A

0.524DataRank · unranked

32 citations

Renan Paulo Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey +8 more

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

JCI Insight(2024)10.1172/jci.insight.174097

N/A

0.345DataRank · unranked

6 citations

Justin R. Sysol, PamelaSara E. Head, Madeline Epping, Oksana Gavrilova, Melissa K. Crocker +22 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561

Top 78%

0.104DataRank

Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

Genetics in Medicine(2023)10.1016/j.gim.2023.101029

N/A

0DataRank · unranked

17 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

JIMD Reports(2023)10.1002/jmd2.12361

N/A

0DataRank · unranked

1 citations

Ryan H. Peretz, Angela Pipitone Dempsey, Jacquelyn Britton, Lisa E. Kratz, Ada Hamosh +4 more

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

medRxiv(2023)10.1101/2023.03.30.23287948

N/A

0DataRank · unranked

7 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

Implementation of a dyadic nomenclature for monogenic diseases

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.019

N/A

0DataRank · unranked

23 citations

Leslie G. Biesecker, Marina T. DiStefano, Melissa A Haendel, Ada Hamosh, Emma Owens +4 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429

Top 100%

0DataRank

Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

Annual Review of Genomics and Human Genetics(2020)10.1146/annurev-genom-083118-014915

N/A

0DataRank · unranked

45 citations

Ada Hamosh, Danielle R. Azzariti

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Cell Genomics(2022)10.1016/j.xgen.2022.100131

N/A

0DataRank · unranked

56 citations

Jennifer L Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa A Haendel +4 more

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

Human Mutation(2022)10.1002/humu.24373

N/A

0DataRank · unranked

51 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1947

N/A

0DataRank · unranked

3 citations

Joann Bodurtha, Ada Hamosh, Christopher Jordan, Suraj Kannan

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Ada Hamosh

Indexed papers

Top data-sharing exemplar

Papers