A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome

- Dunkerton, Sophie, Field, Matthew, Cho, Vicki, Bertram, Edward, Whittle, Belinda, Groves, Alexandra, Goel, Himanshu

Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 (PTPN22)

- Chew, Gary Y. J., Sinha, Umang, Kirkpatrick, Philippa, Riminton, D. Sean, Fulcher, David A., Cook, Matthew C., Gatenby, Paul A., DeMalmanche, Theo, Adelstein, Stephen, Garsia, Roger, Hissaria, Pravin, French, Martyn A., Wilson, Anastasia, Whittle, Belinda

RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility

- O'Bryan, Moira K., Clark, Brett J., Ormandy, Christopher J., Jamsai, Duangporn, McLaughlin, Eileen A., D'Sylva, Rebecca J., O'Donnell, Liza, Wilce, Jacqueline A., Sutherland, Jessie, O'Connor, Anne E., Whittle, Belinda, Goodnow, Christopher C.

RAB-Like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly

- Lo, Jennifer C. Y., Jamsai, Duangporn, Whittle, Belinda, Goodnow, Christopher C., Ormandy, Christopher J., O'Bryan, Moira K., O'Connor, Anne E., Borg, Claire, Clark, Brett J., Whisstock, James C., Field, Mark C., Adams, Vicki, Ishikawa, Tomomoto, Aitken, R. John