Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SMAD4
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
Gariballa N et al.
Traffic (copenhagen, Denmark), 2024
Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience.
Youssef ASE et al.
Current Issues in Molecular Biology, 2022
35723313 (PubMed )
Supplement: cimb-44-00090-s001.zip › Table_S3.xlsx › Var._associated_with_CRC_only
The value of comprehensive genomic sequencing to maximize the identification of clinically actionable alterations in advanced cancer patients: a case series.
Drenner K et al.
Oncotarget, 2021
A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients.
Saha G et al.
Molecular Medicine (cambridge, Mass.), 2020
32552660 (PubMed )
Supplement: 10020_2020_183_MOESM8_ESM.xlsx › Sheet1
Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.
Wing MR et al.
Oncotarget, 2017
29100271 (PubMed )
Supplement: oncotarget-08-75822-s008.xlsx › S7._167_patients
Binding of a Smad4/Ets-1 complex to a novel intragenic regulatory element in exon12 of FPGS underlies decreased gene expression and antifolate resistance in leukemia.
Raz S et al.
Oncotarget, 2014
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
Fleming NI et al.
Cancer Research, 2013
23139211 (PubMed )
Supplement: 00085472can122706-sup-t1-8_xls_117k.xls › Table_S4
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
Ali BR et al.
Plos One, 2011
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