Associated Papers
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Cornier AS et al.
American Journal of Human Genetics, 2008
Molecular analysis of congenital scoliosis: a candidate gene approach.
Maisenbacher MK et al.
Human Genetics, 2005
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Turnpenny PD et al.
Journal of Medical Genetics, 2003
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