Peter Robinson
Peter Robinson
Professor of Computational Biology, The Jackson Laboratory for Genomic Medicine
Bestätigte E-Mail-Adresse bei jax.org - Startseite
Titel
Zitiert von
Zitiert von
Jahr
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
10532008
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
7292014
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
6962008
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
4762008
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
4532007
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
3832006
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
3772017
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
3672009
The molecular genetics of Marfan syndrome and related microfibrillopathies
PN Robinson, M Godfrey
Journal of medical genetics 37 (1), 9-25, 2000
3552000
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
3462007
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
3392010
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
3192003
The human phenotype ontology
PN Robinson, S Mundlos
Clinical genetics 77 (6), 525-534, 2010
3062010
Deep phenotyping for precision medicine
PN Robinson
Human mutation 33 (5), 777-780, 2012
2732012
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
2702015
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
2522016
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
2402014
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
2382002
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
2222019
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ...
Science translational medicine 6 (252), 252ra123-252ra123, 2014
1952014
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