He Wang

Key Laboratory Of Birth Defects And Related Diseases Of Women And Children
Chengdu, China

Last Updated: 09/26/2026

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Found 12 publications

Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual-Generation Case Report.

Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual-Generation Case Report.

Journal: Prenatal diagnosis
Published: December 09, 2025

Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses.

Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses.

Journal: Prenatal diagnosis
Published: October 16, 2025

Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.

Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.

Journal: Orphanet journal of rare diseases
Published: September 26, 2025

PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant.

PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant.

Journal: Journal of medical genetics
Published: March 29, 2025

Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.

Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.

Journal: Orphanet journal of rare diseases
Published: December 03, 2024

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.

Journal: Frontiers in genetics
Published: July 16, 2024

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Journal: Prenatal diagnosis
Published: August 22, 2023

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss.

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss.

Journal: Frontiers in genetics
Published: April 11, 2023

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Journal: Molecular cytogenetics
Published: January 29, 2023

Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies.

Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies.

Journal: Frontiers in genetics
Published: May 29, 2022

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.

Journal: Frontiers in genetics
Published: May 07, 2022

Count-based size-correction analysis of maternal plasma DNA for improved noninvasive prenatal detection of fetal trisomies 13, 18, and 21.

Count-based size-correction analysis of maternal plasma DNA for improved noninvasive prenatal detection of fetal trisomies 13, 18, and 21.

Journal: American journal of translational research
Published: January 05, 2017
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Last Updated: 09/26/2026