Ada Hamosh

30.5k total citations · 11 hit papers
99 papers, 13.3k citations indexed

About

Ada Hamosh is a scholar working on Genetics, Molecular Biology and Pulmonary and Respiratory Medicine. According to data from OpenAlex, Ada Hamosh has authored 99 papers receiving a total of 13.3k indexed citations (citations by other indexed papers that have themselves been cited), including 54 papers in Genetics, 41 papers in Molecular Biology and 19 papers in Pulmonary and Respiratory Medicine. Recurrent topics in Ada Hamosh's work include Genomics and Rare Diseases (40 papers), Genomic variations and chromosomal abnormalities (22 papers) and Metabolism and Genetic Disorders (18 papers). Ada Hamosh is often cited by papers focused on Genomics and Rare Diseases (40 papers), Genomic variations and chromosomal abnormalities (22 papers) and Metabolism and Genetic Disorders (18 papers). Ada Hamosh collaborates with scholars based in United States, Canada and United Kingdom. Ada Hamosh's co-authors include Joanna Amberger, Carol Bocchini, Alan F. Scott, François Schiettecatte, David Valle, David Valle‐García, Harry C. Dietz, Alan L. Scott, Victor A. McKusick and Clair A. Francomano and has published in prestigious journals such as Nature, New England Journal of Medicine and Proceedings of the National Academy of Sciences.

In The Last Decade

Ada Hamosh

95 papers receiving 12.9k citations

Hit Papers

Online Mendelian Inheritance in Man (OMIM), a knowledg... 1991 2026 2002 2014 2004 2014 1991 2000 2018 500 1000 1.5k 2.0k
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. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    2004 2.4k citations Ada Hamosh Nucleic Acids Research profile →
  2. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
    2014 1.6k citations Joanna Amberger, Carol Bocchini et al. Nucleic Acids Research profile →
  3. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
    1991 1.5k citations Ada Hamosh et al. profile →
  4. Online Mendelian Inheritance In Man (OMIM)
    2000 820 citations Ada Hamosh, Joanna Amberger et al. Human Mutation profile →
  5. OMIM.org: leveraging knowledge across phenotype–gene relationships
    2018 583 citations Joanna Amberger, Carol Bocchini et al. Nucleic Acids Research profile →
  6. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    2002 554 citations Ada Hamosh Nucleic Acids Research profile →
  7. McKusick's Online Mendelian Inheritance in Man (OMIM(R))
    2008 519 citations Joanna Amberger, Carol Bocchini et al. Nucleic Acids Research profile →
  8. Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes
    2017 474 citations Joanna Amberger, Ada Hamosh profile →
  9. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
    2015 449 citations Nara Sobreira, François Schiettecatte et al. Human Mutation profile →
  10. Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    2005 324 citations Mary Armanios, Julian J.‐L. Chen et al. Proceedings of the National Academy of Sciences profile →
  11. How many rare diseases are there?
    2019 279 citations Melissa Haendel, Heidi L. Rehm et al. profile →

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Ada Hamosh United States 39 7.1k 4.8k 1.9k 1.1k 1.1k 99 13.3k
Jonathan L. Haines United States 75 8.4k 1.2× 3.6k 0.8× 943 0.5× 465 0.4× 399 0.4× 412 21.3k
Erwin P. Böttinger United States 63 9.6k 1.3× 1.8k 0.4× 1.6k 0.8× 2.0k 1.7× 86 0.1× 165 18.3k
Christopher Southan United Kingdom 50 7.1k 1.0× 674 0.1× 1.1k 0.5× 588 0.5× 1.2k 1.1× 120 15.5k
Wen Xie United States 70 6.5k 0.9× 3.3k 0.7× 478 0.2× 1.5k 1.3× 357 0.3× 276 16.8k
Jacques Simard Canada 59 4.8k 0.7× 6.2k 1.3× 1.4k 0.7× 1.2k 1.1× 111 0.1× 295 13.8k
László Nagy Hungary 57 12.2k 1.7× 2.7k 0.6× 848 0.4× 1.9k 1.7× 99 0.1× 271 18.6k
Richard J. Santen United States 78 6.1k 0.9× 10.2k 2.1× 2.1k 1.1× 2.9k 2.5× 318 0.3× 355 19.6k
Marilyn Safran Israel 25 5.4k 0.8× 1.3k 0.3× 637 0.3× 1.3k 1.2× 728 0.7× 32 8.8k
Thomas Illig Germany 67 7.3k 1.0× 2.1k 0.4× 750 0.4× 1.4k 1.3× 97 0.1× 287 15.1k
Liewei Wang United States 48 4.7k 0.7× 1.5k 0.3× 748 0.4× 1.6k 1.4× 354 0.3× 233 8.7k

Countries citing papers authored by Ada Hamosh

Since Specialization
Citations

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

Fields of papers citing papers by Ada Hamosh

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ada Hamosh. 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 Ada Hamosh. The network helps show where Ada Hamosh may publish in the future.

Co-authorship network of co-authors of Ada Hamosh

This figure shows the co-authorship network connecting the top 25 collaborators of Ada Hamosh. A scholar is included among the top collaborators of Ada Hamosh 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 Ada Hamosh. Ada Hamosh 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.
Thaxton, Courtney, Leslie G. Biesecker, Marina T. DiStefano, et al.. (2024). Implementation of a dyadic nomenclature for monogenic diseases. The American Journal of Human Genetics. 111(9). 1810–1818. 6 indexed citations
2.
Kratz, Lisa E., et al.. (2023). The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem. JIMD Reports. 64(3). 233–237. 1 indexed citations
3.
Sobreira, Nara, Sean J. Griffith, Corina Antonescu, et al.. (2023). P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant. SHILAP Revista de lepidopterología. 1(1). 100734–100734. 1 indexed citations
4.
Thaxton, Courtney, Jennifer Goldstein, Marina T. DiStefano, et al.. (2022). Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation. Cell Genomics. 2(5). 100131–100131. 17 indexed citations
5.
Jelin, Angie C., Nara Sobreira, Elizabeth Wohler, et al.. (2020). The utility of exome sequencing for fetal pleural effusions. Prenatal Diagnosis. 40(5). 590–595. 10 indexed citations
6.
Fichtman, Boris, Tamar Harel, Carolyn Applegate, et al.. (2019). Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy. The American Journal of Human Genetics. 105(1). 48–64. 21 indexed citations
7.
Sobreira, Nara, Harindra Arachchi, Orion J. Buske, et al.. (2017). Matchmaker Exchange. Current Protocols in Human Genetics. 95(1). 9.31.1–9.31.15. 32 indexed citations
8.
Dyke, Stephanie O. M., Bartha Maria Knoppers, Ada Hamosh, et al.. (2017). “Matching” consent to purpose: The example of the Matchmaker Exchange. Human Mutation. 38(10). 1281–1285. 9 indexed citations
9.
Jurgens, Julie A., Hua Ling, Kurt N. Hetrick, et al.. (2015). Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics. Genetics in Medicine. 17(10). 782–788. 35 indexed citations
10.
Hamosh, Ada, Nara Sobreira, Julie Hoover‐Fong, et al.. (2013). P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features. Human Mutation. 34(4). 566–571. 48 indexed citations
11.
Amberger, Joanna, Carol Bocchini, & Ada Hamosh. (2011). A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Human Mutation. 32(5). 564–567. 253 indexed citations
12.
Sobreira, Nara L. M., Michael F. Walsh, Beth Marosy, et al.. (2011). Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Research. 21(10). 1720–1727. 33 indexed citations
13.
14.
Collaco, Joseph M., Susan R. Panny, Ada Hamosh, & Peter J. Mogayzel. (2010). False Negative Cystic Fibrosis Newborn Screen. Clinical Pediatrics. 49(3). 214–216. 9 indexed citations
15.
Vanscoy, Lori L., Scott M. Blackman, Joseph M. Collaco, et al.. (2007). Heritability of Lung Disease Severity in Cystic Fibrosis. American Journal of Respiratory and Critical Care Medicine. 175(10). 1036–1043. 140 indexed citations
16.
Armanios, Mary, Julian J.‐L. Chen, Yen-Pei C. Chang, et al.. (2005). Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proceedings of the National Academy of Sciences. 102(44). 15960–15964. 324 indexed citations breakdown →
17.
Hamosh, Ada, et al.. (2005). ヒトのオンラインメンデル性遺伝(OMIM),ヒト遺伝子および遺伝子病の情報ベース. Nucleic Acids Research. 33. 514–517. 83 indexed citations
18.
Loscalzo, Melissa L., et al.. (2004). Interstitial deletion of chromosome 2q32‐34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency). American Journal of Medical Genetics Part A. 128A(3). 311–315. 9 indexed citations
19.
Hamosh, Ada, Garry R. Cutting, Robert D. Oates, & J. Amos. (1994). Correlation of the level of full-length CFTR transcript with pulmonary phenotype in patients carrying R117H and 1342-1,-2delAG mutations. The American Journal of Human Genetics. 55. 2 indexed citations
20.
Hamosh, Ada, Bruce C. Trapnell, Pamela L. Zeitlin, et al.. (1991). Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.. Journal of Clinical Investigation. 88(6). 1880–1885. 111 indexed citations

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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