Peter Robinson

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Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéVerified email at molgen.mpg.de
Sebastian KöhlerSenior Information Architect, Ada Health; Member of Monarch InitiativeVerified email at ada.com
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsVerified email at uni-bonn.de
Sebastian BauerVerified email at sebastianbauer.info
Yskert von KodolitschVerified email at uke.de
Damian SmedleyQueen Mary University of LondonVerified email at qmul.ac.uk
Christopher J MungallLawrence Berkeley National LaboratoryVerified email at lbl.gov
Marten JägerInstitut für Medizinische Genetik und Humangenetik Charite Berlin - Bioinformatic core facilityVerified email at charite.de
Suzanna LewisLawrence Berkeley National LaboratoryVerified email at lbl.gov
Claus-Eric OttInstitute for Medical Genetics and Human GeneticsVerified email at charite.de
Nicole L WashingtonHelixVerified email at helix.com
Tomasz ZemojtelHead of Genomics Platform, Berlin Institute of Health, University Clinics ChariteVerified email at bihealth.de
Gao GuoUTsouthwesternVerified email at utsouthwestern.edu
Sandra C. Wilson (Doelken)Department of Human Genetics, UKE, University of HamburgVerified email at medizinische-genetik.de
Tudor GrozaPryzm HealthVerified email at pryzm.health
Uwe KornakUniversitaetsmedizin GöttingenVerified email at med.uni-goettingen.de
Dominik SeelowProfessor of Bioinformatics and Translational Genetics, Charité - Universitätsmedizin BerlinVerified email at charite.de
Marcel H SchulzProfessor of Computational Biology, Goethe University Frankfurt, GermanyVerified email at em.uni-frankfurt.de
Max SchubachComputational Genome Biology, Berlin Institute of Health (BIH), Berlin, GermanyVerified email at bihealth.de
Anika OellrichKing's College LondonVerified email at kcl.ac.uk

Peter Robinson

Professor of Computational Biology, The Jackson Laboratory for Genomic Medicine

Verified email at jax.org - Homepage

Computational biology human genetics ontologies molecular genetics


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
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	1107	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	754	2014
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	754	2008
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	564	2017
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	499	2008
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	485	2007
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	399	2006
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	396	2009
The molecular genetics of Marfan syndrome and related microfibrillopathies PN Robinson, M Godfrey Journal of medical genetics 37 (1), 9-25, 2000	373	2000
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	358	2007
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	344	2010
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	340	2003
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	336	2019
The human phenotype ontology PN Robinson, S Mundlos Clinical genetics 77 (6), 525-534, 2010	318	2010
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	301	2015
Deep phenotyping for precision medicine PN Robinson Human mutation 33 (5), 777-780, 2012	299	2012
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	282	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	256	2014
Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies PN Robinson, P Booms, S Katzke, M Ladewig, L Neumann, M Palz, ... Human mutation 20 (3), 153-161, 2002	243	2002
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases H Yang, PN Robinson, K Wang Nature methods 12 (9), 841-843, 2015	221	2015

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