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Bio
His group developed the Human Phenotype Ontology (HPO), which is now an international standard for computation over human disease that is used by the Sanger Institute, several NIH-funded groups including the Undiagnosed Diseases Program, Genome Canada, the rare diseases section of the UK's 100,000 Genomes Project, and many others. The group develops algorithms and software for the analysis of exome and genome sequences and has used whole-exome sequencing and other methods to identify a number of novel disease genes, including CA8, PIGV, PIGO, PGAP3, IL-21R, PIGT, and PGAP2.
Research Interests
Papers共 475 篇Author StatisticsCo-AuthorSimilar Experts
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Translational psychiatryno. 1 (2024): 246-246
Justin T Reese, Leonardo Chimirri,Daniel Danis,J Harry Caufield, Kyran Wissink,Elena Casiraghi, Giorgio Valentini,Melissa A Haendel, Christopher J Mungall,Peter N Robinson
medRxiv : the preprint server for health sciences (2024)
Prenatal diagnosisno. 4 (2024): 454-464
bioRxiv : the preprint server for biology (2024)
Anando Sen,Victoria Hedley,Eva Degraeuwe,Steven Hirschfeld,Ronald Cornet,Ramona Walls,John Owen,Peter N. Robinson, Edward G. Neilan,Thomas Liener, Giovanni Nisato,Neena Modi,
Brian S White,Xing Yi Woo,Soner Koc,Todd Sheridan,Steven B Neuhauser,Shidan Wang,Yvonne A Evrard,Li Chen, Ali Foroughi Pour,John D Landua,R Jay Mashl,Sherri R Davies,
Cancer researchno. 13 (2024): 2060-2072
Emanuele Cavalleri, Mauricio Soto Gomez, Ali Pashaeibarough,Dario Malchiodi, J. Harry Caufield, Justin T. Reese, Christopher J. Mungall,Peter N. Robinson,Elena Casiraghi,Giorgio Valentini, Marco Mesiti
Symposium of Advanced Database Systemspp.61-69, (2024)
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David Lagorce, Emeline Lebreton,Leslie Matalonga, Oscar Hongnat, Maroua Chahdil,Davide Piscia,Ida Paramonov,Kornelia Ellwanger,Sebastian Köhler,Peter Robinson,Holm Graessner,Sergi Beltran,
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Author Statistics
#Papers: 465
#Citation: 24034
H-Index: 79
G-Index: 145
Sociability: 8
Diversity: 4
Activity: 132
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