Kenichi Yamamoto - Publications

Clinical and Genetic Characterization of Osteogenesis Imperfecta in Japanese Patients: Outcomes of Sequential Bisphosphonate Therapy.

Journal: Calcified tissue international

Published: November 09, 2025

Sibling cases of congenital hypogonadotropic hypogonadism harboring compound heterozygous KISS1R variants.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: September 23, 2025

Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining.

Journal: Bone reports

Published: September 08, 2025

Real-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide.

Journal: Bone

Published: August 06, 2025

Cross-Species Comparison between Mouse Kidney Multi-Omics and Human Genome-Wide Association Studies Highlights Molecular Features Associated with Oxalate Nephropathy.

Journal: Kidney360

Published: June 28, 2025

Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymoma.

Journal: Nature communications

Published: May 28, 2025

NEFL is associated with inhibition of odontoblastic process in odontohypophosphatasia.

Journal: Journal of bone and mineral metabolism

Published: April 04, 2025

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report.

Journal: Frontiers in endocrinology

Published: March 07, 2025

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene.

Journal: Cell genomics

Published: February 01, 2025

Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.

Journal: Nature medicine

Published: October 25, 2024

Inconsistent embryo selection across polygenic score methods.

Journal: Nature human behaviour

Published: October 14, 2024

Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance.

Journal: Nature genetics

Published: September 28, 2024