Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Por Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Publicado em 2020-07-01

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Por Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Publicado em 2020-02-01