Tatsuro Kumaki

Yokohama, Japan

Last Updated: 09/26/2026

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Found 17 publications

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Journal: European journal of human genetics : EJHG

Published: October 05, 2024

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

Journal: American journal of medical genetics. Part A

Published: March 16, 2024

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Journal: Journal of human genetics

Published: May 16, 2023

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.

Journal: Frontiers in neurology

Published: October 31, 2022

A novel variant of ARPC4-related neurodevelopmental disorder.

A novel variant of ARPC4-related neurodevelopmental disorder.

Journal: American journal of medical genetics. Part A

Published: August 23, 2022

Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging.

Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging.

Journal: Human genomics

Published: May 18, 2022

Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.

Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.

Journal: American journal of medical genetics. Part A

Published: May 10, 2022

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Journal: Clinical genetics

Published: November 04, 2021

Further delineation of SET-related intellectual disability syndrome.

Further delineation of SET-related intellectual disability syndrome.

Journal: American journal of medical genetics. Part A

Published: June 19, 2021

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

Journal: Molecular syndromology

Published: May 14, 2021

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.

Journal: Molecular syndromology

Published: March 30, 2021

Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay.

Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 23, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026