Associated Papers
Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.
Wang SK et al.
Journal of Dental Sciences, 2026
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
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Nikolopoulos G et al.
Human Mutation, 2021
Dental malformations associated with biallelic MMP20 mutations.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2020
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
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.
Kim YJ et al.
Frontiers in Physiology, 2017
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
Gasse B et al.
Frontiers in Physiology, 2017
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL et al.
Frontiers in Physiology, 2017
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
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
Gasse B et al.
Journal of Dental Research, 2013
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
MMP20 hemopexin domain mutation in amelogenesis imperfecta.
Lee SK et al.
Journal of Dental Research, 2010
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.
Ozdemir D et al.
Journal of Dental Research, 2005
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