Sanami Takada
Tokyo, Japan
Last Updated: 09/26/2026
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Found 19 publications
Loss-of-function variants in MARK2 cause neurodevelopmental disorder.
Journal: HGG advances
Published: November 19, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Journal: The journal of allergy and clinical immunology. Global
Published: January 22, 2025
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.
Journal: Journal of clinical immunology
Published: March 14, 2024
Altered genomic methylation promotes Staphylococcus aureus persistence in hospital environment.
Journal: Nature communications
Published: December 12, 2023
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Journal: NPJ genomic medicine
Published: November 21, 2023
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
Journal: The Journal of allergy and clinical immunology
Published: August 10, 2023
Human phenotype caused by biallelic KDM4B frameshift variant.
Journal: Clinical genetics
Published: June 05, 2023
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
Journal: Human genomics
Published: August 24, 2022
A Pitfall of Whole Exome Sequencing: Variants in the 5'UTR Splice Site of BTK Causing XLA.
Journal: Journal of clinical immunology
Published: September 30, 2021
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Journal: Hormone research in paediatrics
Published: June 07, 2021
Last Updated: 09/26/2026