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
The potential of deep learning on the discovery of new genes implicated in differences of sex development.
von der Decken I et al.
Computational and Structural Biotechnology Journal, 2026
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk.
Maxwell J et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Merepa SS et al.
European Journal of Human Genetics : Ejhg, 2025
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Kjærsgaard Andersen R et al.
Journal of the American Academy of Dermatology, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
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
The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.
Glotov OS et al.
International Journal of Molecular Sciences, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 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
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 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
Omenn syndrome in a 10-month-old male with athymia and VACTERL association.
Pangli BK et al.
The Journal of Allergy and Clinical Immunology. Global, 2023
Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.
Zhao Y et al.
Archives of Oral Biology, 2023
Molecular basis and genetics of hypohidrotic ectodermal dysplasias.
Kovalskaia VA et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS et al.
Pnas Nexus, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.
Ross JN et al.
Oral Diseases, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 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
WNT10A and RUNX2 mutations associated with non-syndromic tooth agenesis.
Živković M et al.
European Journal of Oral Sciences, 2022
Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.
Letra A
Current Osteoporosis Reports, 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
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.
Keskin G et al.
Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2022
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 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
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD et al.
American Journal of Medical Genetics. Part A, 2021
Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.
Heng AHS et al.
Bmc Medical Genomics, 2021
Genetic skin disorders: The value of a multidisciplinary clinic.
Parker JC et al.
American Journal of Medical Genetics. Part A, 2021
Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis.
Zeng Y et al.
Journal of Dental Research, 2021
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
Vanzo RJ et al.
Journal of Personalized Medicine, 2020
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020