Associated Papers
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 2025
Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.
Guo X et al.
International Dental Journal, 2025
Exonic and Intronic WNT10A Variants Isolated from Korean Children with Non-Syndromic Tooth Agenesis.
Ju Y et al.
Diagnostics (basel, Switzerland), 2025
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.
Wu Y et al.
Human Genetics, 2024
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Kim MJ et al.
Orphanet Journal of Rare Diseases, 2024
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.
Zhao Y et al.
Archives of Oral Biology, 2023
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC et al.
Journal of Assisted Reproduction and Genetics, 2023
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS et al.
Pnas Nexus, 2023
Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.
Sun Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing.
Lee S et al.
Frontiers in Genetics, 2023
Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.
Liu H et al.
Diagnostics (basel, Switzerland), 2022
Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis.
Xie W et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
WNT10A, dermatology and dentistry.
Doolan BJ et al.
The British Journal of Dermatology, 2021
Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.
Heng AHS et al.
Bmc Medical Genomics, 2021
Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis.
Zeng Y et al.
Journal of Dental Research, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.
Kanchanasevee C et al.
Frontiers in Physiology, 2020
Predicting disease-causing variant combinations.
Papadimitriou S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.
Zhao K et al.
Oral Diseases, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
WNT10A mutation results in severe tooth agenesis in a family of three sisters.
Abid MF et al.
Orthodontics & Craniofacial Research, 2018
Role of WNT10A in failure of tooth development in humans and zebrafish.
Yuan Q et al.
Molecular Genetics & Genomic Medicine, 2017
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
Zeng B et al.
Genes, 2017
Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing.
Yamaguchi T et al.
Human Genome Variation, 2017
WNT10A variants isolated from Japanese patients with congenital tooth agenesis.
Machida J et al.
Human Genome Variation, 2017
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2015
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.
Mues G et al.
American Journal of Medical Genetics. Part A, 2014
Variability in dentofacial phenotypes in four families with WNT10A mutations.
Vink CP et al.
European Journal of Human Genetics : Ejhg, 2014
Disulfide bond requirements for active Wnt ligands.
MacDonald BT et al.
The Journal of Biological Chemistry, 2014
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.
Kantaputra P et al.
American Journal of Medical Genetics. Part A, 2014
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.
Song S et al.
Human Genetics, 2014
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
Mostowska A et al.
Clinical Genetics, 2013
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
He H et al.
Plos One, 2013