Lamei Yuan

central south university

H指数:22

被引数:1,435

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Molecular Aspects of Medicine

IF10.3

2026-09-150

PRE

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

中国马凡综合征患者中发现的三个FBN1致病性变异：包括一个经功能验证的剪接改变性缺失在内的两种新型变异

Clinica Chimica Acta

IF2.9

2026-08-280

PRE

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

DNAH11基因的变异导致原发性纤毛运动障碍或可能为非典型原发性纤毛运动障碍，并表现为左右不对称障碍

PLoS One

IF2.6

2026-05-080

PRE

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

一种新型的SLC20A2无义变异及其原发性脑钙化的机制研究

PLoS One

IF2.6

2026-04-170

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

在两个常染色体显性多囊肾病患者中国家庭中发现的PKD1剪接和PKD2无义变异

NEPHROLOGY

IF2.6

2025-10-010

PRE

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

汉族帕金森病患者中TMEM230变异的遗传分析

Neuroscience Letters

IF2

2025-07-290

PRE

Different GJA8 missense variants reveal distinct pathogenic mechanisms in congenital cataract

不同GJA8错义变异揭示了先天性白内障中不同的致病机制

LIFE SCIENCES

IF5.1

2025-06-010

PRE

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease (vol 16, e0252786, 2021)

DNAH11复合杂合变异导致异位和先天性心脏病（vol 16, e0252786, 2021）

PLOS ONE

IF2.6

2024-12-120

CADASIL: A NOTCH3-associated cerebral small vessel disease

CADASIL: 一种NOTCH3-associated的脑小血管疾病

JOURNAL OF ADVANCED RESEARCH

IF13

2024-12-011

OAAI

The role of the PLA2G6 gene in neurodegenerative diseases

PLA2G6基因在神经退行性疾病中的作用

AGEING RESEARCH REVIEWS

IF12.4

2023-08-0110

PRE

Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder

FRONTIERS IN MOLECULAR BIOSCIENCES

IF4

2023-06-290

OAAI

Analysis of SOD1 variants in Chinese patients with familial amyotrophic lateral sclerosis

中国家族性肌萎缩侧索硬化患者SOD1变异分析

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

IF6.4

2023-01-204

PRE

Editorial: Genetic and Epigenetic Basis of Neurodegenerative Diseases

FRONTIERS IN AGING NEUROSCIENCE

IF4.5

2022-06-271

OAAI

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease

帕金森病SNCA变异的遗传学分析及文献复习

FRONTIERS IN AGING NEUROSCIENCE

IF4.5

2021-08-1210

OAAI

Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family (vol 15, 601757, 2021)

FRONTIERS IN NEUROSCIENCE

IF3.2

2021-04-210

OAAI

Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

汉族家庭中TTN和TRAPPC11基因的双基因变异与肢带型肌营养不良共分离

FRONTIERS IN NEUROSCIENCE

IF3.2

2021-03-0410

OAAI

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with syndrome

BIOSCIENCE REPORTS

IF4.7

2020-06-1615

OAAI

Heterozygous RHO p. R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

一个患有色素性视网膜炎和不同屈光不正的汉族大家族的杂合RHO p. R135W错义突变

BIOSCIENCE REPORTS

IF4.7

2019-07-124

OAAI

Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer

在中国汉族乳腺癌家庭中鉴定BRCA2 c.5722_5723del突变

BIOSCIENCE REPORTS

IF4.7

2019-04-303

OAAI

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

一个中国汉族Stargardt病家系新致病性ABCA4变异的鉴定

BIOSCIENCE REPORTS

IF4.7

2019-01-1516

OAAI

Lamei Yuan

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