Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
Doğan Arı AB et al.
European Journal of Pediatrics, 2025
Pancreatic Neuroendocrine Tumor: The Case Report of a Patient with Germline FANCD2 Mutation and Tumor Analysis Using Single-Cell RNA Sequencing.
Avsievich E et al.
Journal of Clinical Medicine, 2024
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree.
Mo R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
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
Whole genome sequencing in families with oligodontia.
Mitscherling J et al.
Oral Diseases, 2024
REEV: review, evaluate and explain variants.
Hramyka D et al.
Nucleic Acids Research, 2024
Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report.
Grün P et al.
Annals of Medicine and Surgery (2012), 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
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Cesarato N et al.
The British Journal of Dermatology, 2023
Molecular basis and genetics of hypohidrotic ectodermal dysplasias.
Kovalskaia VA et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis.
Lan R et al.
Oral Diseases, 2023
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS et al.
Pnas Nexus, 2023
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
Washington C et al.
Clinical Case Reports, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.
García-Martínez VE et al.
Children (basel, Switzerland), 2023
Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.
Ross JN et al.
Oral Diseases, 2023
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer.
Bielik P et al.
Clinical Oral Investigations, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.
Biedziak B et al.
Journal of Clinical Medicine, 2022
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.
Tesolin P et al.
Journal of Personalized Medicine, 2022
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.
Dąbrowska J et al.
Molecular Genetics and Genomics : Mgg, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
WNT10A, dermatology and dentistry.
Doolan BJ et al.
The British Journal of Dermatology, 2021
Analyses of oligodontia phenotypes and genetic etiologies.
Zhou M et al.
International Journal of Oral Science, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia.
Liu R et al.
Dermatology Online Journal, 2021
Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis.
Zeng Y et al.
Journal of Dental Research, 2021
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC et al.
Orphanet Journal of Rare Diseases, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Prevalence of WNT10A gene mutations in non-syndromic oligodontia.
Ruiz-Heiland G et al.
Clinical Oral Investigations, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members.
Zimmermann CE et al.
Acta Dermato-venereologica, 2019
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.
Yu M et al.
American Journal of Medical Genetics. Part A, 2019
Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
Fournier BP et al.
Journal of Dental Research, 2018
Further evidence for the role of WNT10A, WNT10B and GREM2 as candidate genes for isolated tooth agenesis.
Magruder S et al.
Orthodontics & Craniofacial Research, 2018
WNT10A mutation results in severe tooth agenesis in a family of three sisters.
Abid MF et al.
Orthodontics & Craniofacial Research, 2018
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.
Williams MA et al.
Genes, 2018
Rare and Common Variants Conferring Risk of Tooth Agenesis.
Jonsson L et al.
Journal of Dental Research, 2018
Case report of Schöpf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A.
Hsu TC et al.
The Journal of Dermatology, 2018
WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).
Guazzarotti L et al.
Clinical Genetics, 2018
Schöpf-Schulz-Passarge syndrome associated with two new missense mutations in WNT10A.
Pauly KJ et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2018