Hideaki Sawai

Genetic Counsellor Course
Kyoto, Japan

Last Updated: 09/26/2026

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Found 54 publications

VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing.

VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing.

Journal: Journal of human genetics

Published: December 30, 2025

Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.

Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.

Journal: Journal of human genetics

Published: September 09, 2025

Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan.

Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan.

Journal: Journal of human genetics

Published: July 25, 2025

Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies.

Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies.

Journal: Prenatal diagnosis

Published: April 07, 2025

Rare Intronic Variants Altering Splicing Cause Lynch Syndrome: Two Case Reports.

Rare Intronic Variants Altering Splicing Cause Lynch Syndrome: Two Case Reports.

Journal: The journal of obstetrics and gynaecology research

Published: March 18, 2025

Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies.

Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies.

Journal: Journal of human genetics

Published: October 29, 2024

Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.

Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.

Journal: Surgery today

Published: October 04, 2024

Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of COL2A1 (c.1266+2T>A) in an Adult with Kniest Dysplasia: A Case Report.

Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of COL2A1 (c.1266+2T>A) in an Adult with Kniest Dysplasia: A Case Report.

Journal: Molecular syndromology

Published: September 03, 2024

Impact of the new government-involved noninvasive prenatal testing certification system on the awareness of pregnant women about noninvasive prenatal testing in Japan.

Impact of the new government-involved noninvasive prenatal testing certification system on the awareness of pregnant women about noninvasive prenatal testing in Japan.

Journal: The journal of obstetrics and gynaecology research

Published: May 13, 2024

Prenatal diagnosis of bone dysplasias.

Prenatal diagnosis of bone dysplasias.

Journal: The British journal of radiology

Published: June 23, 2023

Preconception education program for non-invasive prenatal testing focused on interest in genetics among female university students in Japan: a quasi-experimental study comparing pre-intervention, post-intervention, and three-month follow-up results.

Preconception education program for non-invasive prenatal testing focused on interest in genetics among female university students in Japan: a quasi-experimental study comparing pre-intervention, post-intervention, and three-month follow-up results.

Journal: Archives of public health = Archives belges de sante publique

Published: March 04, 2023

Comprehensive Genomic Profiling Detects Hereditary Cancers and Confers Survival Advantage in Patients With Gynaecological Cancers.

Comprehensive Genomic Profiling Detects Hereditary Cancers and Confers Survival Advantage in Patients With Gynaecological Cancers.

Journal: Anticancer research

Published: January 17, 2023

Showing 1-12 of 54

Last Updated: 09/26/2026