Defects in tRNA anticodon loop 2'-O-methylation are implicated in non-syndromic X-linked intellectual disability due to mutations in FTSJ1

Por Guy, Michael P., Shaw, Marie, Weiner, Catherine L., Hobson, Lynne, Stark, Zornitza, Rose, Katherine, Kalscheuer, Vera M., Gecz, Jozef, Phizicky, Eric M.
Publicado no Hum Mutat (2015)

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Por Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef
Publicado no Eur J Hum Genet (2016)

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Por Field, Michael, Scheffer, Ingrid E, Gill, Deepak, Wilson, Meredith, Christie, Louise, Shaw, Marie, Gardner, Alison, Glubb, Georgie, Hobson, Lynne, Corbett, Mark, Friend, Kathryn, Willis-Owen, Saffron, Gecz, Jozef
Publicado em 2012