Min-yue Dong

1, Xueshi Road
Hangzhou, 310006, China

Last Updated: 09/26/2026

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Found 30 publications

Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism

Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism

Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Published: September 07, 2026

Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurement.

Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurement.

Journal: Orphanet journal of rare diseases

Published: September 08, 2025

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.

Journal: World journal of pediatrics : WJP

Published: August 03, 2025

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

Journal: BMC pregnancy and childbirth

Published: May 15, 2024

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.

Journal: BMC pregnancy and childbirth

Published: April 13, 2024

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

Journal: BMC medical genomics

Published: December 18, 2023

An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.

An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.

Journal: NPJ genomic medicine

Published: October 31, 2023

Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.

Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.

Journal: Journal of medical genetics

Published: December 12, 2022

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

Journal: Molecular cytogenetics

Published: May 09, 2022

Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy.

Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy.

Journal: International journal of women's health

Published: September 01, 2021

Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome

Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome

Journal: Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition

Published: July 29, 2021

Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age.

Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age.

Journal: BMC pregnancy and childbirth

Published: August 14, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026