Yixi Sun

1, Xueshi Road
Hangzhou, 310006, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 31 publications

Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases.

Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases.

Journal: Clinical and translational medicine

Published: May 10, 2024

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.

Journal: Molecular genetics & genomic medicine

Published: January 10, 2024

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Journal: Frontiers in pediatrics

Published: August 07, 2023

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report.

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report.

Journal: Medicine

Published: May 05, 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

Single-cell landscape analysis reveals systematic senescence in mammalian Down syndrome.

Single-cell landscape analysis reveals systematic senescence in mammalian Down syndrome.

Journal: Clinical and translational medicine

Published: October 26, 2022

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.

Journal: Frontiers in pediatrics

Published: October 06, 2022

Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing.

Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing.

Journal: Laboratory investigation; a journal of technical methods and pathology

Published: September 28, 2022

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele.

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele.

Journal: Frontiers in genetics

Published: July 21, 2022

Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.

Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.

Journal: Frontiers in genetics

Published: June 01, 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

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene.

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene.

Journal: Frontiers in genetics

Published: April 22, 2022

Showing 1-12 of 31

Last Updated: 09/26/2026