Peter Robinson

Citované v

	Všetky	Od 2020
Citácie	35529	17223
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Verejný prístup

všetky položky

271 článkov

9 článkov

dostupné

nedostupné

Na základe mandátov na financovanie

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Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéOverená e-mailová adresa na: molgen.mpg.de
Sebastian KöhlerExpert AI engineer, Ada Health; Member of Monarch InitiativeOverená e-mailová adresa na: ada.com
Christopher J MungallLawrence Berkeley National LaboratoryOverená e-mailová adresa na: lbl.gov
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsOverená e-mailová adresa na: uni-bonn.de
Damian SmedleyQueen Mary University of LondonOverená e-mailová adresa na: qmul.ac.uk
Sebastian BauerOverená e-mailová adresa na: sebastianbauer.info
Yskert von KodolitschOverená e-mailová adresa na: uke.de
Giorgio ValentiniComputer Science Dept. - University of MilanOverená e-mailová adresa na: di.unimi.it
Marten JägerInstitut für Medizinische Genetik und Humangenetik Charite Berlin - Bioinformatic core facilityOverená e-mailová adresa na: charite.de
Suzanna LewisLawrence Berkeley National LaboratoryOverená e-mailová adresa na: lbl.gov
Tudor GrozaBioinformatics Institute, A*STAROverená e-mailová adresa na: bii.a-star.edu.sg
Claus-Eric OttInstitute for Medical Genetics and Human GeneticsOverená e-mailová adresa na: charite.de
Nicole L WashingtonHelixOverená e-mailová adresa na: helix.com
Julie A McMurryUniversity of North Carolina at Chapel HillOverená e-mailová adresa na: unc.edu
Sandra C. Wilson (Doelken)Department of Human Genetics, UKE, University of HamburgOverená e-mailová adresa na: medizinische-genetik.de
Gao GuoUniversity of Alabama at BirminghamOverená e-mailová adresa na: uabmc.edu
Dominik SeelowProfessor of Bioinformatics and Translational Genetics, Berliner Institut für GesundheitsforschungOverená e-mailová adresa na: bih-charite.de
Nicole VasilevskyCritical Path InstituteOverená e-mailová adresa na: c-path.org
Uwe KornakUniversitaetsmedizin GöttingenOverená e-mailová adresa na: med.uni-goettingen.de
Gareth BaynamClinical Professor, Faculty of Medicine and Health Sciences, University of WesternOverená e-mailová adresa na: health.wa.gov.au

Sledovať

Peter Robinson

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

Overená e-mailová adresa na: bih-charite.de - Domovská stránka

Computational biology Machine Learning Ontologies Human genetics


Názov Zoradiť podľa citácií Zoradiť podľa roka Zoradiť podľa názvu	Citované v Citované v	Rok
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	1384	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	1096	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	876	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	738	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	647	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	635	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	582	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	579	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	544	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	524	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	523	2006
Deep phenotyping for precision medicine PN Robinson Human mutation 33 (5), 777-780, 2012	521	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	500	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	449	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	442	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	440	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	429	2007
The molecular genetics of Marfan syndrome and related microfibrillopathies PN Robinson, M Godfrey Journal of medical genetics 37 (1), 9-25, 2000	425	2000
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	424	2003

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