Shu Tadaka

Sendai, 9808573, Japan

Last Updated: 09/26/2026

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Found 49 publications

Increased signaling of the Neanderthal growth hormone receptor.

Increased signaling of the Neanderthal growth hormone receptor.

Journal: Current biology : CB

Published: January 08, 2026

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians.

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians.

Journal: The Journal of clinical investigation

Published: August 05, 2025

Comprehensive functional characterization of rare and known CYP2E1 allelic variants identified in a Japanese population.

Comprehensive functional characterization of rare and known CYP2E1 allelic variants identified in a Japanese population.

Journal: Biochemical pharmacology

Published: June 24, 2025

JG2: an updated version of the Japanese population-specific reference genome.

JG2: an updated version of the Japanese population-specific reference genome.

Journal: Human genome variation

Published: May 31, 2025

Advancements in Whole-Genome Sequencing Protocols: A Decade of In-House Operations and Quality Controls at the Tohoku Medical Megabank.

Advancements in Whole-Genome Sequencing Protocols: A Decade of In-House Operations and Quality Controls at the Tohoku Medical Megabank.

Journal: JMA journal

Published: April 02, 2025

Next-generation sequencing analysis with a population-specific human reference genome.

Next-generation sequencing analysis with a population-specific human reference genome.

Journal: Genes & genetic systems

Published: October 27, 2024

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.

Journal: Journal of human genetics

Published: September 14, 2024

Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.

Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.

Journal: Psychiatry and clinical neurosciences

Published: June 18, 2024

Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.

Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.

Journal: Frontiers in neuroscience

Published: May 24, 2024

Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals.

Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals.

Journal: Biochemical pharmacology

Published: May 06, 2024

Identifying critical age and gender-based metabolomic shifts in a Japanese population of the Tohoku Medical Megabank cohort.

Identifying critical age and gender-based metabolomic shifts in a Japanese population of the Tohoku Medical Megabank cohort.

Journal: Scientific reports

Published: January 24, 2024

Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes.

Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes.

Journal: Journal of human genetics

Published: November 07, 2023

Showing 1-12 of 49

Last Updated: 09/26/2026