Peter Robinson

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Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéPotvrđena adresa e-pošte na molgen.mpg.de
Sebastian KöhlerExpert Information Architect, Ada Health; Member of Monarch InitiativePotvrđena adresa e-pošte na ada.com
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsPotvrđena adresa e-pošte na uni-bonn.de
Sebastian BauerPotvrđena adresa e-pošte na sebastianbauer.info
Christopher J MungallLawrence Berkeley National LaboratoryPotvrđena adresa e-pošte na lbl.gov
Damian SmedleyQueen Mary University of LondonPotvrđena adresa e-pošte na qmul.ac.uk
Yskert von KodolitschPotvrđena adresa e-pošte na uke.de
Marten JägerInstitut für Medizinische Genetik und Humangenetik Charite Berlin - Bioinformatic core facilityPotvrđena adresa e-pošte na charite.de
Suzanna LewisLawrence Berkeley National LaboratoryPotvrđena adresa e-pošte na lbl.gov
Claus-Eric OttInstitute for Medical Genetics and Human GeneticsPotvrđena adresa e-pošte na charite.de
Giorgio ValentiniComputer Science Dept. - University of MilanPotvrđena adresa e-pošte na di.unimi.it
Nicole L WashingtonHelixPotvrđena adresa e-pošte na helix.com
Tudor GrozaEuropean Bioinformatics InstitutePotvrđena adresa e-pošte na ebi.ac.uk
Gao GuoUTsouthwesternPotvrđena adresa e-pošte na utsouthwestern.edu
Sandra C. Wilson (Doelken)Department of Human Genetics, UKE, University of HamburgPotvrđena adresa e-pošte na medizinische-genetik.de
Dominik SeelowProfessor of Bioinformatics and Translational Genetics, Berliner Institut für GesundheitsforschungPotvrđena adresa e-pošte na bih-charite.de
Julie A McMurryUniversity of Colorado, AnschutzPotvrđena adresa e-pošte na cuanschutz.edu
Uwe KornakUniversitaetsmedizin GöttingenPotvrđena adresa e-pošte na med.uni-goettingen.de
Max SchubachComputational Genome Biology, Berlin Institute of Health at Charité - Universitätsmedizin BerlinPotvrđena adresa e-pošte na bih-charite.de
Marcel H SchulzProfessor of Computational Biology, Goethe University Frankfurt, GermanyPotvrđena adresa e-pošte na em.uni-frankfurt.de

Prati

Peter Robinson

Professor of Computational Biology, The Jackson Laboratory for Genomic Medicine

Potvrđena adresa e-pošte na jax.org - Početna stranica

Computational biology human genetics ontologies molecular genetics


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
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	1262	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	939	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	869	2014
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	739	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	553	2007
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	548	2008
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	490	2009
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	489	2019
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	471	2021
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	461	2006
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	434	2015
Deep phenotyping for precision medicine PN Robinson Human mutation 33 (5), 777-780, 2012	420	2012
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	400	2007
The molecular genetics of Marfan syndrome and related microfibrillopathies PN Robinson, M Godfrey Journal of medical genetics 37 (1), 9-25, 2000	388	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	380	2003
The human phenotype ontology PN Robinson, S Mundlos Clinical genetics 77 (6), 525-534, 2010	366	2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ... Nature genetics 42 (10), 827-829, 2010	363	2010
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), 1-19, 2016	361	2016
Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research 24 (2), 340-348, 2014	323	2014
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	320	2017

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