Associated Papers
An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.
Tan X et al.
Frontiers in Genetics, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation.
Ugwu N et al.
Hgg Advances, 2021
33912852 (PubMed )
Supplement: mmc2.xlsx › Sheet1
The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.
Diplas BH et al.
Nature Communications, 2018
29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
Egan JB et al.
Plos One, 2014
24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
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