Associated Papers
Olaparib for patients with tumors harboring alterations in homologous recombination repair genes: Results from the drug rediscovery protocol.
Spiekman IAC et al.
International Journal of Cancer, 2026
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series.
Campwala I et al.
Pediatric Blood & Cancer, 2025
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.
Wegert J et al.
Genome Medicine, 2025
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
Abu-El-Haija A et al.
American Journal of Medical Genetics. Part A, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.
Murphy AJ et al.
Nature Communications, 2023
Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.
Montes-Rodríguez IM et al.
Cancer Medicine, 2023
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.
Serra G et al.
Italian Journal of Pediatrics, 2022
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 2022
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Househam J et al.
Nature, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
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
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Ikegami M et al.
Communications Biology, 2021
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 2021
Genotyping data of routinely processed matched primary/metastatic tumor samples.
Kotoula V et al.
Data in Brief, 2021
Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.
Charo LM et al.
Molecular Oncology, 2021
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.
Mamlouk S et al.
Bmc Biology, 2020
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL et al.
European Journal of Cancer (oxford, England : 1990), 2019
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
Enomoto Y et al.
Congenital Anomalies, 2018
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.
Oliveira DM et al.
Oncotarget, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.
Gadd S et al.
Nature Genetics, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Hague J et al.
American Journal of Medical Genetics. Part A, 2017
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.
Mamlouk S et al.
Nature Communications, 2017
Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.
Lee SH et al.
Oncotarget, 2017
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours.
Perlman EJ et al.
Nature Communications, 2015
Genetic and chromosomal alterations in Kenyan Wilms Tumor.
Lovvorn HN et al.
Genes, Chromosomes & Cancer, 2015
Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.
Brannon AR et al.
Genome Biology, 2014
Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.
Chénier S et al.
American Journal of Medical Genetics. Part A, 2012
Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.
Haruta M et al.
Cancer Science, 2012
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
Perdu B et al.
Clinical Genetics, 2011
Osteopathia striata with cranial sclerosis owing to WTX gene defect.
Perdu B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact.
Wegert J et al.
Genes, Chromosomes & Cancer, 2009
Mutational analysis of WTX gene in Wnt/ beta-catenin pathway in gastric, colorectal, and hepatocellular carcinomas.
Yoo NJ et al.
Digestive Diseases and Sciences, 2009
Canonical WNT signalling determines lineage specificity in Wilms tumour.
Fukuzawa R et al.
Oncogene, 2009
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Jenkins ZA et al.
Nature Genetics, 2009