Associated Papers
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
Kong X et al.
American Journal of Medical Genetics. Part A, 2024
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
Wah YMI et al.
Fetal Diagnosis and Therapy, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.
Zhang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Select a paper to view details