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Genome Sequencing Reveals the Prevalence of Fabry Disease–Causing Variants in Japan: Evidence from the Tohoku Medical MegabankDOI 10.1016/j.gimo.2026.104490
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals.Semantic proximity
Newborn screening for Fabry disease in the western region of JapanSemantic proximity
Whole-genome sequencing of 3,135 individuals representing the genetic diversity of the Japanese populationSemantic proximity
Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Semantic proximity
Next-generation sequencing approaches for genetic mapping of complex diseases.Semantic proximity
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Semantic proximity
Prevalence of Fabry disease-causing variants in the UK Biobank.Semantic proximity
Diagnostic utility of transcriptome sequencing for rare Mendelian diseasesSemantic proximity
Human genetic variation database, a reference database of genetic variations in the Japanese population.Semantic proximity
ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencingSemantic proximity
Fabry disease in a Japanese population-molecular and biochemical characteristicsSemantic proximity
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencingSemantic proximity
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