Associated Papers
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2020
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
26181491 (PubMed )
Supplement: gim2015100x1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518
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