Retrieve available abstracts of 5 articles: HTML format
Single Articles
September 2025
CUVERTINO S, Martirosian E, Bhosale K, Cheng P, et al Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1
iPSCs, neuronal progenitors and cortical neurons.
PLoS Genet. 2025;21:e1011608. PubMedAbstract available
March 2025
NONARATH HJT, Simpson SL, Slobodianuk TL, Tran H, et al The USH3A causative gene clarin1 functions in Muller glia to maintain retinal
photoreceptors.
PLoS Genet. 2025;21:e1011205. PubMedAbstract available
October 2024
MCRAE HM, Leong MPY, Bergamasco MI, Garnham AL, et al Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered
transcription in the cortex of a mouse model of the Borjeson-Forssman-Lehmann
intellectual disability syndrome.
PLoS Genet. 2024;20:e1011428. PubMedAbstract available
June 2024
GAO CW, Lin W, Riddle RC, Chopra S, et al Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic
similarities to Kabuki syndrome 1.
PLoS Genet. 2024;20:e1011310. PubMedAbstract available
March 2024
BOUSSATY EC, Ninoyu Y, Andrade LR, Li Q, et al Altered Fhod3 expression involved in progressive high-frequency hearing loss via
dysregulation of actin polymerization stoichiometry in the cuticular plate.
PLoS Genet. 2024;20:e1011211. PubMedAbstract available