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Scientific Reports|March 26, 2017
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitorsCaitlin R Bridges, Men-Chee Tan, Susitha Premarathne, et al.
Epilepsy Research|March 23, 2013
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformationZaid Afawi, Simone Mandelstam, Amos D Korczyn, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology|November 27, 2008
Combining first and second trimester markers for Down syndrome screening: think twiceRobert Cocciolone, Kate Brameld, Peter O'Leary, et al.
Human Molecular Genetics|March 24, 2017
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)Duyen H Pham, Chuan C Tan, Claire C Homan, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 9, 2011
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophreniaTod Fullston, Bronte Gabb, David Callen, et al.
European Journal of Human Genetics : EJHG|May 26, 2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disabilityRaman Kumar, Thuong Ha, Duyen Pham, et al.
The Clinical Journal of Pain|April 23, 2008
Pain characteristics and their association with quality of life and self-concept in children with hemiplegic cerebral palsy identified from a population registerRemo N Russo, Michelle D Miller, Eric Haan, et al.
Translational Psychiatry|May 6, 2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKristy L Kolc, Lynette G Sadleir, Christel Depienne, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsMichael Field, Ingrid E Scheffer, Deepak Gill, et al.
Human Molecular Genetics|March 27, 2021
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann SyndromeRaies Ahmed, Shihab Sarwar, Jinghua Hu, et al.
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