Peter Robinson

Citeras av

	Alla	Sedan 2020
Citat	35307	17089
h-index	96	60
i10-index	333	251

4000

2000

1000

3000

2004200520062007200820092010201120122013201420152016201720182019202020212022202320242025140 158 253 283 295 503 587 744 1058 1188 1374 1787 2070 2183 2361 2579 2589 2868 3704 3452 3913 506

Offentlig åtkomst

Visa alla

268 artiklar

9 artiklar

tillgänglig

inte tillgänglig

Enligt krav från finansiärer

Medförfattare

Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéVerifierad e-postadress på molgen.mpg.de
Sebastian KöhlerExpert AI engineer, Ada Health; Member of Monarch InitiativeVerifierad e-postadress på ada.com
Christopher J MungallLawrence Berkeley National LaboratoryVerifierad e-postadress på lbl.gov
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsVerifierad e-postadress på uni-bonn.de
Damian SmedleyQueen Mary University of LondonVerifierad e-postadress på qmul.ac.uk
Sebastian BauerVerifierad e-postadress på sebastianbauer.info
Yskert von KodolitschVerifierad e-postadress på uke.de
Giorgio ValentiniComputer Science Dept. - University of MilanVerifierad e-postadress på di.unimi.it
Marten JägerInstitut für Medizinische Genetik und Humangenetik Charite Berlin - Bioinformatic core facilityVerifierad e-postadress på charite.de
Suzanna LewisLawrence Berkeley National LaboratoryVerifierad e-postadress på lbl.gov
Tudor GrozaBioinformatics Institute, A*STARVerifierad e-postadress på bii.a-star.edu.sg
Claus-Eric OttInstitute for Medical Genetics and Human GeneticsVerifierad e-postadress på charite.de
Nicole L WashingtonHelixVerifierad e-postadress på helix.com
Julie A McMurryUniversity of North Carolina at Chapel HillVerifierad e-postadress på unc.edu
Sandra C. Wilson (Doelken)Department of Human Genetics, UKE, University of HamburgVerifierad e-postadress på medizinische-genetik.de
Gao GuoUniversity of Alabama at BirminghamVerifierad e-postadress på uabmc.edu
Dominik SeelowProfessor of Bioinformatics and Translational Genetics, Berliner Institut für GesundheitsforschungVerifierad e-postadress på bih-charite.de
Nicole VasilevskyCritical Path InstituteVerifierad e-postadress på c-path.org
Uwe KornakUniversitaetsmedizin GöttingenVerifierad e-postadress på med.uni-goettingen.de
Gareth BaynamClinical Professor, Faculty of Medicine and Health Sciences, University of WesternVerifierad e-postadress på health.wa.gov.au

Följ

Peter Robinson

Berlin Institute of Health, Charité - Universitätsmedizin, Berlin, Germany

Verifierad e-postadress på bih-charite.de - Startsida

Computational biology Machine Learning Ontologies Human genetics


Titel Sortera efter citat Sortera efter år Sortera efter titel	Citeras av Citeras av	År
Walking the interactome for prioritization of candidate disease genes S Köhler, S Bauer, D Horn, PN Robinson The American Journal of Human Genetics 82 (4), 949-958, 2008	1369	2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos The American Journal of Human Genetics 83 (5), 610-615, 2008	1097	2008
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014	947	2014
The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021	865	2021
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019	742	2019
The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017	652	2017
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, BL Loeys, A Child, C Binquet, E Gautier, ... The American Journal of Human Genetics 81 (3), 454-466, 2007	634	2007
Clinical diagnostics in human genetics with semantic similarity searches in ontologies S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ... The American Journal of Human Genetics 85 (4), 457-464, 2009	581	2009
Ontologizer 2.0—a multifunctional tool for GO term enrichment analysis and data exploration S Bauer, S Grossmann, M Vingron, PN Robinson Bioinformatics 24 (14), 1650-1651, 2008	578	2008
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021	531	2021
The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015	525	2015
The molecular genetics of Marfan syndrome and related disorders PN Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, ... Journal of medical genetics 43 (10), 769-787, 2006	524	2006
Deep phenotyping for precision medicine PN Robinson Human mutation 33 (5), 777-780, 2012	519	2012
The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment MA Haendel, CG Chute, TD Bennett, DA Eichmann, J Guinney, WA Kibbe, ... Journal of the American Medical Informatics Association 28 (3), 427-443, 2021	499	2021
An expanded evaluation of protein function prediction methods shows an improvement in accuracy Y Jiang, TR Oron, WT Clark, AR Bankapur, D D’Andrea, R Lepore, ... Genome biology 17, 1-19, 2016	445	2016
International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017	440	2017
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020	435	2020
Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis S Grossmann, S Bauer, PN Robinson, M Vingron Bioinformatics 23 (22), 3024-3031, 2007	431	2007
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database G Collod‐Béroud, S Le Bourdelles, L Ades, L Ala‐Kokko, P Booms, ... Human mutation 22 (3), 199-208, 2003	426	2003
The molecular genetics of Marfan syndrome and related microfibrillopathies PN Robinson, M Godfrey Journal of medical genetics 37 (1), 9-25, 2000	418	2000

Systemet kan inte utföra åtgärden just nu. Försök igen senare.

Artiklar 1–20

Citat per år

Dubblettcitat

Sammanfogade citat

Lägg till medförfattareMedförfattare

Följ

Citeras av

Medförfattare