Associated Papers
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.
Aoki E et al.
Molecular Genetics and Metabolism Reports, 2023
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
Zhang L et al.
Clinical Genetics, 2021
Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE.
Zhang L et al.
Frontiers in Genetics, 2021
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