Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
Kong X et al.
American Journal of Medical Genetics. Part A, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
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
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
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