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
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 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
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
Sayed MG et al.
Annals of Surgical Oncology, 2002