Associated Papers
Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.
Geng C et al.
Bmc Oral Health, 2025
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Aceves-Ewing NM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Leclerc J et al.
Genes, Chromosomes & Cancer, 2023
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM et al.
Familial Cancer, 2022
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Jensen JM et al.
Familial Cancer, 2022
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.
Williams MA et al.
Genes, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Rohlin A et al.
Familial Cancer, 2017
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.
Yue H et al.
European Journal of Oral Sciences, 2016
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.
Liu H et al.
Plos One, 2015
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
Bonachea EM et al.
Bmc Medical Genomics, 2014
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.
Wong S et al.
Archives of Oral Biology, 2014
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
Bergendal B et al.
American Journal of Medical Genetics. Part A, 2011