Associated Papers
Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.
Galka-Marciniak P et al.
Nucleic Acids Research, 2025
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach.
Ray M et al.
Genomics & Informatics, 2022
Implications of disease-related mutations at protein-protein interfaces.
Xiong D et al.
Current Opinion in Structural Biology, 2022
Analysis and Interpretation of the Impact of Missense Variants in Cancer.
Petrosino M et al.
International Journal of Molecular Sciences, 2021
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Proposal for a Combined Histomolecular Algorithm to Distinguish Multiple Primary Adenocarcinomas from Intrapulmonary Metastasis in Patients with Multiple Lung Tumors.
Mansuet-Lupo A et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2019
StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.
Sen M et al.
Cancer Medicine, 2017
Genetic heterogeneity in synchronous colorectal cancers impacts genotyping approaches and therapeutic strategies.
Jesinghaus M et al.
Genes, Chromosomes & Cancer, 2016
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
Fleming NI et al.
Cancer Research, 2013
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V et al.
American Journal of Human Genetics, 2012
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
Calva-Cerqueira D et al.
Clinical Genetics, 2009
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
Howe JR et al.
Journal of Medical Genetics, 2004
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione CJ et al.
Lancet (london, England), 2004