Peter Robinson
Peter Robinson
Professor of Computational Biology, The Jackson Laboratory for Genomic Medicine
Verified email at jax.org - Homepage
TitleCited byYear
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
8752008
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, 2013
5852013
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
5712008
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
4342008
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
3962007
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, 2016
3452016
The molecular genetics of Marfan syndrome and related microfibrillopathies
PN Robinson, M Godfrey
Journal of medical genetics 37 (1), 9-25, 2000
3352000
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
3342006
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, 2010
3182010
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
2972007
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
2802003
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
2772009
The human phenotype ontology
PN Robinson, S Mundlos
Clinical genetics 77 (6), 525-534, 2010
2642010
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
2222002
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
1972014
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
1952015
Evaluating the effectiveness of applied sport psychology practice: Making the case for a case study approach
AG Anderson, C Mahoney, A Miles, P Robinson
The Sport Psychologist 16 (4), 432-453, 2002
1902002
Deep phenotyping for precision medicine
PN Robinson
Human mutation 33 (5), 777-780, 2012
1862012
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
AN Albrecht, U Kornak, A Böddrich, K Süring, PN Robinson, AC Stiege, ...
Human molecular genetics 13 (20), 2351-2359, 2004
1592004
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), 184, 2016
1572016
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