Publications
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 ;176(9):1897-1909.
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 ;182(1):38-52.
. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 ;63(11):1119-1128.
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