Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.
Deepthi B et al.
Pediatric Nephrology (berlin, Germany), 2025
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.
Hany U et al.
Human Mutation, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.
Kim YJ et al.
Journal of Personalized Medicine, 2023
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
Zhang H et al.
Journal of Dental Research, 2019
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL et al.
Frontiers in Physiology, 2017
WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
Katsura KA et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
Kuechler A et al.
Molecular Syndromology, 2012
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
Wright JT et al.
Cells, Tissues, Organs, 2011
Novel WDR72 mutation and cytoplasmic localization.
Lee SK et al.
Journal of Dental Research, 2010
Select a paper to view details