Sachiko Ohori

Yokohama, Japan

Last Updated: 09/26/2026

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Found 17 publications

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Journal: NPJ genomic medicine

Published: August 14, 2025

Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation.

Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation.

Journal: Journal of dermatological science

Published: August 06, 2025

Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.

Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.

Journal: Journal of human genetics

Published: May 08, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Journal: NPJ genomic medicine

Published: March 11, 2025

Triple mosaic variants of PURA in a patient with multiple congenital anomalies.

Triple mosaic variants of PURA in a patient with multiple congenital anomalies.

Journal: Journal of human genetics

Published: October 21, 2024

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Journal: Journal of human genetics

Published: August 08, 2024

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.

Journal: Frontiers in genetics

Published: April 03, 2024

Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

Journal: Genomics

Published: March 17, 2024

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay.

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay.

Journal: Clinical case reports

Published: May 15, 2023

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

Journal: Life science alliance

Published: March 06, 2023

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

Journal: Journal of human genetics

Published: September 22, 2022

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

Showing 1-12 of 17

Last Updated: 09/26/2026