Associated Papers
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Levy M et al.
Prenatal Diagnosis, 2025
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Khalaf-Nazzal R et al.
Brain Sciences, 2021
34064836 (PubMed )
Supplement: brainsci-11-00614-s001.zip › brainsci-1200361-supplementary › brainsci-1200361-supplementary.pdf
Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.
Xie S et al.
Cell Reports, 2020
32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT179_Mutations
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R et al.
European Journal of Human Genetics : Ejhg, 2020
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