Chunli L. Wang

72 Guangzhou Road
Nanjing, 210008, China

Last Updated: 09/26/2026

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Found 51 publications

Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.

Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: March 17, 2026

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

Published: January 05, 2026

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis.

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis.

Journal: Molecular genetics & genomic medicine

Published: December 31, 2025

LAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.

LAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.

Journal: Cardiology in the young

Published: September 01, 2025

A Case Report of Shwachman-Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review.

A Case Report of Shwachman-Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review.

Journal: Molecular genetics & genomic medicine

Published: June 29, 2025

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: June 11, 2025

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

Journal: Epilepsia

Published: April 29, 2025

Whole-exome sequencing identifies novel truncating ALPK3 variants in a compound heterozygous state associated with pediatric hypertrophic cardiomyopathy and phenotypic heterogeneity.

Whole-exome sequencing identifies novel truncating ALPK3 variants in a compound heterozygous state associated with pediatric hypertrophic cardiomyopathy and phenotypic heterogeneity.

Journal: Gene

Published: April 07, 2025

Severe conduction block and cardiomyopathy associated with desminopathy.

Severe conduction block and cardiomyopathy associated with desminopathy.

Journal: Cardiology in the young

Published: March 14, 2025

Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.

Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.

Journal: Human cell

Published: January 24, 2025

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

Journal: Frontiers in genetics

Published: January 21, 2025

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Journal: Molecular genetics & genomic medicine

Published: January 17, 2025

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Last Updated: 09/26/2026