Table of contents

Phenotypes

• Short report: TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly (22 July, 2014)

  David Gillis, Aiswarya Krishnamohan, Barak Yaacov, Avraham Shaag, Jane E Jackman, Orly Elpeleg
• Communications:

  Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

  (23 July, 2014)

  Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow
• Short report:

  A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

  (25 July, 2014)

  Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong, Ivan F M Lo, Stephen T S Lam, Vincent C T Mok, Lawrence K S Wong, Jacky C K Ngo, Kwok-Fai Lau, Ting-Fung Chan, H Y Edwin Chan