Wei Li

首都医科大学

H指数:24

被引数:2,227

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Deletion of a YEDL sequence in SLC35D3 perturbs its targeting to platelet dense granule precursors

SLC35D3中YEDL序列的缺失扰乱其向血小板致密颗粒前体的靶向定位

Journal of Biological Chemistry

IF3.9

2026-08-010

PRE

Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes

中国自闭症队列中稀有变异的基因组景观及新型风险基因的发现

Molecular Psychiatry

IF10.1

2026-07-160

PRE

A dileucine motif in TMEM163 is essential for its binding with both AP-3 and BLOC-1 complex

TMEM163中的二亮氨酸基序对于其与AP-3和BLOC-1复合物的结合至关重要

Journal of Biological Chemistry

IF3.9

2026-04-140

Deficiency of BLOS1 moderately impairs the biogenesis of platelet dense granules

BLOS1缺乏会适度损害血小板致密颗粒的生物发生

Platelets

IF2.6

2025-12-310

OCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production

OCA2缺乏通过增强TPC2通道活性来降低黑色素体pH值并减少色素产生。

Journal of Investigative Dermatology

IF5.7

2025-12-230

PRE

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns

针对中国新生儿进行靶向基因筛查，以识别携带者状态和早发疾病风险。

Communications Medicine

IF6.3

2025-11-140

OAAI

A large-scale survey on the knowledge, attitude, and practice of patient-based real-time quality control in China

一项关于中国基于患者的实时质量控制知识、态度和实践的大规模调查

Clinical Biochemistry

IF2.1

2025-11-100

OAAI

Clinical characteristics and outcomes of COVID-19-Associated acute encephalopathy in pediatric patients during the Omicron wave in beijing: a single-center prospective study

北京奥密克戎流行期间儿童COVID-19相关急性脑病的临床特征与结局：一项单中心前瞻性研究

BMC PEDIATRICS

IF2

2025-09-240

OAAI

Rapid Diagnosis and Subtyping of Hermansky-Pudlak Syndrome With Flow Cytometry Analysis

流式细胞术分析在Hermansky-Pudlak综合征的快速诊断和分型中的应用

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2025-09-010

PRE

Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2025-05-010

PRE

Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism

变异效应的多重检测及中国 oculocutaneous albinism 患者 TYR 变异的重分类

Journal of Investigative Dermatology

IF5.7

2025-04-170

PRE

Research progress of extracellular vesicles in the pathogenesis of type IIIA chronic prostatitis

FRONTIERS IN IMMUNOLOGY

IF5.9

2025-02-170

OAAI

Specific molecular imaging of BALB/c model mice with Graves' ophthalmopathy based on high expression of insulin-like growth factor 1 receptor

基于胰岛素样生长因子1受体高表达对BALB/c模型小鼠格雷夫斯眼病的特异性分子成像

ANNALS OF NUCLEAR MEDICINE

IF2.5

2025-02-070

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders

拷贝数变异测序联合全外显子组测序在产前左右不对称性疾病中的应用

BMC GENOMICS

IF3.7

2025-01-280

OAAI

Implications of prognostic nutritional index in predicting adverse outcomes of uncontrolled diabetic patients: a cohort study of the national health and nutrition examination survey from 2005-2018

DIABETOLOGY & METABOLIC SYNDROME

IF3.9

2024-12-301

OAAI

Systematic assessment of structural variant annotation tools for genomic interpretation

LIFE SCIENCE ALLIANCE

IF2.9

2024-12-100

Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2024-12-050

PRE

Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-231

PRE

HPS6 Deficiency Leads to Reduced Vacuolar-Type H1-ATPase and Impaired Biogenesis of Lamellar Bodies in Alveolar Type II Cells

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

IF5.3

2024-10-011

PRE

Nuclear envelope budding inhibition slows down progerin- induced aging process

核包膜出芽抑制减缓早老蛋白诱导的衰老过程

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2024-10-010

OAAI

Wei Li

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