Lushan Li

No. 9 Jinsui Road, Tianhe District
Guangzhou, 510623, China

Last Updated: 09/26/2026

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Found 15 publications

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort.

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort.

Journal: Human genomics

Published: August 30, 2025

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.

Journal: Prenatal diagnosis

Published: February 12, 2025

NDUFA4 Deletion Upregulates VDAC1 to Promote Mitochondrial Damage, Endoplasmic Reticulum Expansion, and Neuronal Apoptosis.

NDUFA4 Deletion Upregulates VDAC1 to Promote Mitochondrial Damage, Endoplasmic Reticulum Expansion, and Neuronal Apoptosis.

Journal: Human mutation

Published: December 26, 2024

Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review.

Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review.

Journal: Heliyon

Published: April 14, 2024

Prenatal diagnosis and outcomes in fetuses with duplex kidney.

Prenatal diagnosis and outcomes in fetuses with duplex kidney.

Journal: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

Published: September 28, 2023

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

Journal: BMC medical genomics

Published: June 27, 2023

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.

Journal: Human genetics

Published: January 13, 2023

Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.

Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.

Journal: Genes

Published: December 01, 2022

Genetic diagnosis of fetal microcephaly at a single tertiary center in China.

Genetic diagnosis of fetal microcephaly at a single tertiary center in China.

Journal: Frontiers in genetics

Published: November 30, 2022

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.

Journal: Genes

Published: September 21, 2022

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.

Journal: Genome medicine

Published: May 17, 2022

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

Journal: Molecular cytogenetics

Published: March 28, 2022

Showing 1-12 of 15

Last Updated: 09/26/2026