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American Journal of Human Genetics|September 20, 2016
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa SyndromeFuxi Zhu, Fengsong Wang, Xiaoyu Yang, et al.
Developmental Medicine and Child Neurology|November 21, 2008
Motor function in 5-year-old children with cerebral palsy in the South Australian populationJames Rice, Remo Russo, Julie Halbert, et al.
European Journal of Human Genetics : EJHG|December 21, 2006
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardationWei Chen, Lars R Jensen, Jozef Gecz, et al.
Neurobiology of Disease|May 16, 2018
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering EpilepsyClaire C Homan, Stephen Pederson, Thu-Hien To, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
Journal of Child Neurology|September 9, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic ReviewYana A Wilson, Natasha Garrity, Hayley Smithers-Sheedy, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.
Epilepsia|May 5, 2017
Reduced steroidogenesis in patients with PCDH19-female limited epilepsyMarina Trivisano, Chiara Lucchi, Cecilia Rustichelli, et al.
Life Science Alliance|August 24, 2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in femalesMatilda R Jackson, Karagh E Loring, Claire C Homan, et al.
Open Heart|July 30, 2019
'Big issues' in neurodevelopment for children and adults with congenital heart diseaseCharlotte E Verrall, Gillian M Blue, Alison Loughran-Fowlds, et al.
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