Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N et al.
Prenatal Diagnosis, 2020
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
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R et al.
Human Genetics, 2018
WNT10A mutation results in severe tooth agenesis in a family of three sisters.
Abid MF et al.
Orthodontics & Craniofacial Research, 2018
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2015
Variability in dentofacial phenotypes in four families with WNT10A mutations.
Vink CP et al.
European Journal of Human Genetics : Ejhg, 2014
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Plaisancié J et al.
American Journal of Medical Genetics. Part A, 2013
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
van den Boogaard MJ et al.
Journal of Medical Genetics, 2012
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
Petrof G et al.
The Australasian Journal of Dermatology, 2011
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.
Nagy N et al.
Journal of Dermatological Science, 2010
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Bohring A et al.
American Journal of Human Genetics, 2009