Chunna Fan

Shenzhen, 518083, China

Last Updated: 09/26/2026

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Found 11 publications

Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.

Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.

Journal: Human genomics
Published: September 08, 2025

Application of Non-Invasive Prenatal Testing for Dominant Single-Gene Disorders in an Intermediate-Risk Population: A Prospective Cohort Study.

Application of Non-Invasive Prenatal Testing for Dominant Single-Gene Disorders in an Intermediate-Risk Population: A Prospective Cohort Study.

Journal: Prenatal diagnosis
Published: September 05, 2025

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Journal: PloS one
Published: April 04, 2024

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.

Journal: JAMA network open
Published: September 01, 2023

Test development, optimization and validation of a WGS pipeline for genetic disorders.

Test development, optimization and validation of a WGS pipeline for genetic disorders.

Journal: BMC medical genomics
Published: December 08, 2022

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.

Journal: Medicine
Published: December 01, 2021

Characterization of genomic clones by targeted deep sequencing of ctDNA to monitor liver cancer.

Characterization of genomic clones by targeted deep sequencing of ctDNA to monitor liver cancer.

Journal: Translational cancer research
Published: June 10, 2021

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs.

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs.

Journal: BMC genomics
Published: April 27, 2021

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

Journal: BMC medical genomics
Published: May 20, 2020

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

Journal: European journal of human genetics : EJHG
Published: June 07, 2019

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Journal: European journal of human genetics : EJHG
Published: February 15, 2018
Showing 1-11 of 11

Last Updated: 09/26/2026