SavvyCNV: Genome-wide CNV calling from off-target reads. by Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling

Get full text

Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP by Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco

Get full text

Complete loss of PAX4 causes transient neonatal diabetes in humans by James Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, Mahsa Amoli, Nasser Ali Mirhosseini, Tushar Godbole, Matthew B. Johnson, D. Evelyn Ibarra, Han Sun, Nicole A.J. Krentz, Matthew N. Wakeling, Sarah E. Flanagan, Andrew T. Hattersley, Anna L. Gloyn, Elisa De Franco

Get full text