Shuting Yang
Changsha, China
Last Updated: 09/26/2026
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Found 13 publications
Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.
Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.
Journal: BMC medical genomics
Published: March 28, 2025
Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects.
Journal: BMC pregnancy and childbirth
Published: November 12, 2024
A Comparative Study of Medium-Coverage Genome Sequencing and SNP Array Technology in Identifying Chromosomal Abnormalities to Advance Prenatal and Postnatal Diagnosis.
Journal: The Journal of molecular diagnostics : JMD
Published: May 14, 2024
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Journal: Frontiers in endocrinology
Published: August 15, 2023
Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.
Journal: Frontiers in genetics
Published: December 13, 2022
Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients.
Journal: Frontiers in genetics
Published: April 24, 2021
Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
Journal: Molecular genetics & genomic medicine
Published: March 09, 2021
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.
Journal: Molecular genetics & genomic medicine
Published: November 27, 2020
Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Journal: Molecular genetics & genomic medicine
Published: October 26, 2020
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism.
Journal: BMC medical genomics
Published: September 18, 2020
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.
Journal: Molecular genetics & genomic medicine
Published: March 13, 2020
Last Updated: 09/26/2026