Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Huang R et al.
Human Genetics, 2023
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Han J et al.
Prenatal Diagnosis, 2020
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Hänninen UA et al.
Plos Genetics, 2018
29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b
Recurrent, truncating SOX9 mutations are associated with SOX9 overexpression, KRAS mutation, and TP53 wild type status in colorectal carcinoma.
Javier BM et al.
Oncotarget, 2016
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