Lamei Yuan

138 Tongzipo Road
Changsha, 410013, China

Last Updated: 09/26/2026

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Found 84 publications

Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.

Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 02, 2026

A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.

A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.

Journal: PloS one

Published: December 04, 2025

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

Journal: Intractable & rare diseases research

Published: July 11, 2025

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Journal: PloS one

Published: June 07, 2025

Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder.

Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder.

Journal: PloS one

Published: May 09, 2025

Genetic analysis of TMEM230 variants in Han Chinese patients with Parkinson's disease.

Genetic analysis of TMEM230 variants in Han Chinese patients with Parkinson's disease.

Journal: Neuroscience letters

Published: May 02, 2025

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: February 24, 2025

Different GJA8 missense variants reveal distinct pathogenic mechanisms in congenital cataract.

Different GJA8 missense variants reveal distinct pathogenic mechanisms in congenital cataract.

Journal: Life sciences

Published: December 24, 2024

Correction: DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Correction: DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Journal: PloS one

Published: December 12, 2024

Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.

Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.

Journal: PloS one

Published: October 31, 2024

PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.

PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.

Journal: Nephrology (Carlton, Vic.)

Published: October 17, 2024

Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment.

Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment.

Journal: Progress in retinal and eye research

Published: September 05, 2024

Showing 1-12 of 84

Last Updated: 09/26/2026