DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Por Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Publicado em 2014

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Por Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Publicado no Hum Mutat (2015)

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Por Swaminathan, Ganesh J., Bragin, Eugene, Chatzimichali, Eleni A., Corpas, Manuel, Bevan, A. Paul, Wright, Caroline F., Carter, Nigel P., Hurles, Matthew E., Firth, Helen V.
Publicado em 2012

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Por Wright, Caroline F, Fitzgerald, Tomas W, Jones, Wendy D, Clayton, Stephen, McRae, Jeremy F, van Kogelenberg, Margriet, King, Daniel A, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Bevan, A Paul, Bragin, Eugene, Chatzimichali, Eleni A, Gribble, Susan, Jones, Philip, Krishnappa, Netravathi, Mason, Laura E, Miller, Ray, Morley, Katherine I, Parthiban, Vijaya, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Swaminathan, G Jawahar, Tivey, Adrian R, Middleton, Anna, Parker, Michael, Carter, Nigel P, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Publicado no Lancet (2015)