Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.
Waqas A et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Wang Y et al.
Frontiers in Genetics, 2023
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E et al.
American Journal of Human Genetics, 2022
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