All papers authored by R. Thompson
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2020
Leslie Matalonga,
Steven Laurie 
,
Anastasios Papakonstantinou,
Davide Piscia,
Elisabetta Mereu ,
Gemma Bullich ,
Rachel Thompson ,
Rita Horvath ,
Luis Pérez-Jurado,
Olaf Riess,
Ivo Gut ,
Alessandra Renieri,
Gert-Jan van Ommen,
Ali Dursun,
Hanns Lochmüller
and 69 other authors
,
Anastasios Papakonstantinou,
Davide Piscia,
Elisabetta Mereu ,
Gemma Bullich ,
Rachel Thompson ,
Rita Horvath ,
Luis Pérez-Jurado,
Olaf Riess,
Ivo Gut ,
Alessandra Renieri,
Gert-Jan van Ommen,
Ali Dursun,
Hanns Lochmüller
and 69 other authors
Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity
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2018
Sebastian Köhler ,
Leigh Carmody,
Nicole Vasilevsky ,
Julius O. B. Jacobsen,
Daniel Danis,
Jean-Philippe Gourdine ,
Michael Gargano,
Nomi L. Harris,
Nicolas Matentzoglu ,
Julie A. McMurry ,
David Osumi-Sutherland,
Valentina Cipriani ,
James P. Balhoff ,
Tom Conlin ,
Hannah Blau
and 54 other authors
,
Leigh Carmody,
Nicole Vasilevsky ,
Julius O. B. Jacobsen,
Daniel Danis,
Jean-Philippe Gourdine ,
Michael Gargano,
Nomi L. Harris,
Nicolas Matentzoglu ,
Julie A. McMurry ,
David Osumi-Sutherland,
Valentina Cipriani ,
James P. Balhoff ,
Tom Conlin ,
Hannah Blau
and 54 other authors
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
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