Associated Papers
Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia.
Schiffmaier J et al.
Frontiers in Cell and Developmental Biology, 2025
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
37422472 (PubMed )
Supplement: 41467_2023_39833_MOESM4_ESM.xlsx › Sheet1_
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
A compound heterozygous ALPL variant in a patient with dystonia-parkinsonism and hypointensity in basal ganglia: A case report.
Li XY et al.
Parkinsonism & Related Disorders, 2020
Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
Uday S et al.
Bone, 2019
Discordant fetal phenotype of hypophosphatasia in two siblings.
Ikenoue S et al.
American Journal of Medical Genetics. Part A, 2018
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