Associated Papers
Neonatal X-linked recessive chondrodysplasia punctata.
Bhanudeep S et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.
Wang L et al.
Archives of Gynecology and Obstetrics, 2024
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
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
39669259 (PubMed )
Supplement: mmc1.xlsx › ______1
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
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