H
Helen V. Firth
Researcher at Wellcome Trust Sanger Institute
Publications - 133
Citations - 13427
Helen V. Firth is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 46, co-authored 117 publications receiving 10993 citations. Previous affiliations of Helen V. Firth include Cambridge University Hospitals NHS Foundation Trust & University of Cambridge.
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Journal ArticleDOI
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth,Shola M. Richards,A. Paul Bevan,Stephen Clayton,Manuel Corpas,Diana Rajan,Steven Van Vooren,Yves Moreau,Roger Pettett,Nigel P. Carter +9 more
TL;DR: An interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations.
Journal ArticleDOI
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler,Sandra C. Doelken,Christopher J. Mungall,Sebastian Bauer,Helen V. Firth,Helen V. Firth,Isabelle Bailleul-Forestier,Graeme C.M. Black,Danielle L. Brown,Michael Brudno,Jennifer Campbell,Jennifer Campbell,David R. FitzPatrick,Janan T. Eppig,Andrew P. Jackson,Kathleen Freson,Marta Girdea,Ingo Helbig,Jane A. Hurst,Johanna A. Jähn,Laird G. Jackson,Anne M. Kelly,David H. Ledbetter,Sahar Mansour,Christa Lese Martin,Celia Moss,Andrew D Mumford,Willem H. Ouwehand,Willem H. Ouwehand,Soo Mi Park,Erin Rooney Riggs,Richard H. Scott,Sanjay M. Sisodiya,Steven Van Vooren,Ronald J. Wapner,Andrew O.M. Wilkie,Caroline F. Wright,Anneke T. Vulto-van Silfhout,Nicole de Leeuw,Bert B.A. de Vries,Nicole L. Washingthon,Cynthia L. Smith,Monte Westerfield,Paul N. Schofield,Barbara J. Ruef,Georgios V. Gkoutos,Melissa A. Haendel,Damian Smedley,Suzanna E. Lewis,Peter N. Robinson,Peter N. Robinson +50 more
TL;DR: The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright,Tomas W Fitzgerald,Wendy D Jones,Stephen Clayton,Jeremy F. McRae,Margriet van Kogelenberg,Daniel A. King,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,A. Paul Bevan,Eugene Bragin,Eleni A. Chatzimichali,Susan M. Gribble,Philip Jones,Netravathi Krishnappa,Laura E Mason,Ray Miller,Katherine I. Morley,Katherine I. Morley,Katherine I. Morley,Vijaya Parthiban,Elena Prigmore,Diana Rajan,Alejandro Sifrim,G. Jawahar Swaminathan,Adrian Tivey,Anna Middleton,Michael Parker,Nigel P. Carter,Jeffrey C. Barrett,Matthew E. Hurles,David R. FitzPatrick,Helen V. Firth,Helen V. Firth +34 more
TL;DR: In families with developmentally normal parents, whole exome sequencing of the child and both parents resulted in a 10-fold reduction in the number of potential causal variants that needed clinical evaluation compared to sequencing only the child.
Journal ArticleDOI
The Human Phenotype Ontology in 2017
Sebastian Köhler,Nicole Vasilevsky,Mark Engelstad,Erin D. Foster,Julie A. McMurry,Ségolène Aymé,Gareth Baynam,Gareth Baynam,Susan M. Bello,Cornelius F. Boerkoel,Kym M. Boycott,Michael Brudno,Orion J. Buske,Patrick F. Chinnery,Valentina Cipriani,Laureen E. Connell,Hugh Dawkins,Laura E. DeMare,Andrew D. Devereau,Bert B.A. de Vries,Helen V. Firth,Kathleen Freson,Daniel Greene,Ada Hamosh,Ingo Helbig,Ingo Helbig,Courtney Hum,Johanna A. Jähn,Roger James,Roland Krause,Stanley J. F. Laulederkind,Hanns Lochmüller,Gholson J. Lyon,Soichi Ogishima,Annie Olry,Willem H. Ouwehand,Nikolas Pontikos,Ana Rath,Franz Schaefer,Richard H. Scott,Michael M. Segal,Panagiotis I. Sergouniotis,Richard Sever,Cynthia L. Smith,Volker Straub,Rachel Thompson,C. Turner,Ernest Turro,Marijcke W. M. Veltman,Tom Vulliamy,Jing Yu,Julie von Ziegenweidt,Andreas Zankl,Stephan Züchner,Tomasz Zemojtel,Julius O.B. Jacobsen,Tudor Groza,Damian Smedley,Christopher J. Mungall,Melissa A. Haendel,Peter N. Robinson +60 more
TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.