Huanyun Li

Zhengzhou, China

Last Updated: 09/26/2026

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Found 15 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

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

Journal: American journal of medical genetics. Part A

Published: November 22, 2025

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

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

Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.

Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.

Journal: Clinical genetics

Published: August 26, 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 twin genotyping for recessive monogenic disorders by relative haplotype dosage.

Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.

Journal: Prenatal diagnosis

Published: July 05, 2023

Exploring the roles of intestinal flora in enhanced recovery after surgery.

Exploring the roles of intestinal flora in enhanced recovery after surgery.

Journal: iScience

Published: February 09, 2023

Biological and pharmacological roles of m6A modifications in cancer drug resistance.

Biological and pharmacological roles of m6A modifications in cancer drug resistance.

Journal: Molecular cancer

Published: July 26, 2022

Roles of circulating tumor DNA in PD-1/PD-L1 immune checkpoint Inhibitors: Current evidence and future directions.

Roles of circulating tumor DNA in PD-1/PD-L1 immune checkpoint Inhibitors: Current evidence and future directions.

Journal: International immunopharmacology

Published: July 08, 2022

Showing 1-12 of 15

Last Updated: 09/26/2026