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Seminars in Fetal & Neonatal Medicine|November 10, 2024
Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factorsNandini G Sandran, Nadia Badawi, Jozef Gecz, et al.
Journal of Human Genetics|June 22, 2018
Robust imaging and gene delivery to study human lymphoblastoid cell linesLachlan A Jolly, Ying Sun, Renée Carroll, et al.
Human Molecular Genetics|July 4, 2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowthLachlan A Jolly, Claire C Homan, Reuben Jacob, et al.
Human Molecular Genetics|April 9, 2013
Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disabilityMireille Melko, Lam S Nguyen, Marie Shaw, et al.
Developmental Medicine and Child Neurology|January 3, 2017
The genetic basis of cerebral palsyMichael C Fahey, Alastair H Maclennan, Doris Kretzschmar, et al.
European Journal of Human Genetics : EJHG|April 12, 2012
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, et al.
Human Molecular Genetics|February 19, 2011
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disabilityMireille Melko, Dominique Douguet, Mounia Bensaid, et al.
STAR Protocols|September 19, 2022
Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell linesRaman Kumar, Karthik S Kamath, Luke Carroll, et al.
Molecular Neurobiology|January 7, 2021
Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)Stefka Mincheva-Tasheva, Alvaro F Nieto Guil, Claire C Homan, et al.
European Journal of Medical Genetics|May 22, 2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delaySally Ann Lynch, Lam Son Nguyen, Li Yen Ng, et al.
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