Shaojun Li

Chengdu, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.

Journal: Annals of medicine

Published: January 05, 2026

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

Journal: Journal of translational medicine

Published: June 16, 2025

Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?

Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?

Journal: Prenatal diagnosis

Published: July 29, 2024

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.

Journal: Human mutation

Published: July 06, 2024

High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.

High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.

Journal: Prenatal diagnosis

Published: March 13, 2024

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.

Journal: Orphanet journal of rare diseases

Published: March 11, 2024

First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way.

First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way.

Journal: American journal of medical genetics. Part A

Published: November 18, 2023

Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.

Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.

Journal: Prenatal diagnosis

Published: July 31, 2023

Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation.

Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation.

Journal: Prenatal diagnosis

Published: November 03, 2021

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China.

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China.

Journal: Frontiers in genetics

Published: October 09, 2021

Showing 1-10 of 10

Last Updated: 09/26/2026