SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert(VIB-KU Leuven Center for Brain & Disease Research), Antonio Vitobello(Inserm)
Cited by 25
Related Papers
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|The American Journal of Human Genetics|2020|334
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
|The American Journal of Human Genetics|2021|90
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
|European Journal of Human Genetics|2021|74
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
|Frontiers in Cell and Developmental Biology|2023|19
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
|The American Journal of Human Genetics|2022|17