World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
95
Citations
33083
World Ranking
898
National Ranking
448

Medicine

D-Index
94
Citations
33238
World Ranking
10470
National Ranking
5387

Overview

Peter N. Robinson is affiliated with The Jackson Laboratory in the United States. Their research spans multiple disciplines within the biological and medical sciences, with a notable focus on biochemistry, genetics, and molecular biology, alongside significant contributions in the field of medicine.

The primary subfields in which they have published include molecular biology, genetics, artificial intelligence, infectious diseases, and cancer research. Their work often intersects with various specialized topics such as genomics and rare diseases, biomedical text mining and ontologies, bioinformatics and genomic networks, genomic variations and chromosomal abnormalities, cancer genomics and diagnostics, semantic web and ontologies, and RNA research and splicing.

Peter N. Robinson has been involved in numerous academic publications, with frequent contributions appearing in notable venues. The most common publication venues include bioRxiv (Cold Spring Harbor Laboratory), Zenodo (CERN European Organization for Nuclear Research), UNC Libraries, Bioinformatics, and arXiv (Cornell University).

Among their recent papers, the following are highlighted along with year of publication and venues:

  • The Human Phenotype Ontology in 2021, 2020, Nucleic Acids Research
  • The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment, 2020, Journal of the American Medical Informatics Association
  • Characterizing Long COVID: Deep Phenotype of a Complex Condition, 2021, EBioMedicine
  • Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes, 2022, EBioMedicine
  • Challenges in defining Long COVID: Striking differences across literature, Electronic Health Records, and patient-reported information, 2021, bioRxiv (Cold Spring Harbor Laboratory)

The scientist collaborates frequently with a number of co-authors, including Melissa Haendel, Justin Reese, Chris Mungall, Elena Casiraghi, and Giorgio Valentini.

Best Publications

  • Walking the Interactome for Prioritization of Candidate Disease Genes

    Sebastian Köhler;Sebastian Bauer;Denise Horn;Peter N. Robinson

  • The Human Phenotype Ontology in 2021

    Sebastian Köhler;Michael Gargano;Nicolas Matentzoglu;Leigh C. Carmody

  • The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

    Peter N. Robinson;Sebastian Köhler;Sebastian Bauer;Dominik Seelow

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  • Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

    L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  • Ontologizer 2.0—a multifunctional tool for GO term enrichment analysis and data exploration

    Sebastian Bauer;Steffen Grossmann;Martin Vingron;Peter N. Robinson

  • The National COVID Cohort Collaborative (N3C): Rationale, Design, Infrastructure, and Deployment.

    Melissa A Haendel;Melissa A Haendel;Christopher G Chute;Tellen D Bennett;David A Eichmann

  • Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

    Sebastian Köhler;Marcel H. Schulz;Marcel H. Schulz;Peter Krawitz;Sebastian Bauer

  • The Matchmaker Exchange: a platform for rare disease gene discovery

    Anthony A. Philippakis;Anthony A. Philippakis;Anthony A. Philippakis;Danielle R. Azzariti;Sergi Beltran;Anthony J. Brookes

  • The molecular genetics of Marfan syndrome and related disorders

    Peter N. Robinson;E. Arteaga-Solis;C. Baldock;G. Collod-Béroud

  • Deep phenotyping for precision medicine

    Peter N. Robinson

  • The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.

    Christopher J. Mungall;Julie A. McMurry;Sebastian Köhler;James P. Balhoff

  • An expanded evaluation of protein function prediction methods shows an improvement in accuracy

    Yuxiang Jiang;Tal Ronnen Oron;Wyatt T. Clark;Asma R. Bankapur

  • Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis

    Steffen Grossmann;Sebastian Bauer;Peter N. Robinson;Martin Vingron

  • The molecular genetics of Marfan syndrome and related microfibrillopathies

    Peter N. Robinson;Maurice Godfrey

  • Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

    Gwenaëlle Collod-Béroud;Saga Le Bourdelles;Lesley Ades;Lesley Ades;Leena Ala-Kokko;Leena Ala-Kokko

  • The human phenotype ontology.

    PN Robinson;S Mundlos

  • The Monarch Initiative: An integrative data and analytic platform connecting phenotypes to genotypes across species

    Christopher J Mungall;Julie A McMurry;Sebastian Köhler;James P. Balhoff

Frequent Co-Authors

Stefan Mundlos
Stefan Mundlos Max Planck Society
Melissa A. Haendel
Melissa A. Haendel University of Colorado Anschutz Medical Campus
Christopher J. Mungall
Christopher J. Mungall Lawrence Berkeley National Laboratory
Damian Smedley
Damian Smedley Queen Mary University of London
Suzanna E. Lewis
Suzanna E. Lewis Lawrence Berkeley National Laboratory
Giorgio Valentini
Giorgio Valentini University of Milan
Uwe Kornak
Uwe Kornak University of Göttingen
Michael Brudno
Michael Brudno University of Toronto
Christophe Béroud
Christophe Béroud Aix-Marseille University
Jochen Hecht
Jochen Hecht Centre for Genomic Regulation

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