Associated Papers
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Levy M et al.
Prenatal Diagnosis, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.
DeMille D et al.
Human Mutation, 2024
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Hereditary hemorrhagic telangiectasia in Japanese patients.
Komiyama M et al.
Journal of Human Genetics, 2014
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Gedge F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
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