Associated Papers
Novel Splice Variant in the HES7 Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review.
Nguyen HM et al.
Diagnostics (basel, Switzerland), 2025
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
28944235 (PubMed )
Supplement: MGG3-5-516-s001.xlsx › Table_S2
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Giampietro PF et al.
Annals of the New York Academy of Sciences, 2009
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Cornier AS et al.
American Journal of Human Genetics, 2008
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