Futoshi Sekiguchi

Yokohama, Japan

Last Updated: 09/26/2026

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Found 17 publications

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 07, 2022

MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.

MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.

Journal: American journal of obstetrics and gynecology

Published: February 28, 2022

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 30, 2022

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Journal: Genome medicine

Published: August 31, 2021

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

Journal: Clinical genetics

Published: June 07, 2021

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.

Journal: Brain & development

Published: March 18, 2021

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Journal: Human mutation

Published: June 20, 2020

A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder.

A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder.

Journal: Journal of pediatric genetics

Published: June 15, 2020

A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor.

A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor.

Journal: Epilepsy & behavior reports

Published: May 15, 2020

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.

Journal: Journal of human genetics

Published: May 14, 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal: Journal of human genetics

Published: July 15, 2019

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Journal: Journal of human genetics

Published: May 21, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026