Associated Papers
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf
Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.
Forte G et al.
International Journal of Molecular Sciences, 2024
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR
CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.
Manic G et al.
Gut, 2018
28389531 (PubMed )
Supplement: gutjnl-2016-312623supp002.pdf
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
Heald B et al.
American Journal of Medical Genetics. Part A, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
[Mutation analysis of the CHD7 gene in patients with congenital heart disease].
Qi Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
Aretz S et al.
Journal of Medical Genetics, 2007
[Study on mutation of presenilin-1 gene in familial Alzheimer's disease].
Liu XY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
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