A. Wei

发表

Increasing the complexity: new genes and new types of albinism

Wei Li, T. Rosenberg, S. Riazuddin, 2014, Pigment cell & melanoma research.

The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.

S. Lian, Lejin Wang, A. Wei, 2009, Journal of dermatological science.

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

S. Lian, A. Wei, Wei Li, 2013, Chinese medical journal.

Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient

Zhan Qi, Tianjiao Zhang, A. Wei, 2022, Frontiers in Medicine.

New insights into the pathogenesis of Hermansky–Pudlak syndrome

Chanjuan Hao, A. Wei, Qiao‐Chu Wang, 2022, Pigment cell & melanoma research.

Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism

S. Lian, Y. Wang, A. Wei, 2009, European journal of ophthalmology.

Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations

Li Li, Wei Shi, Wei Li, 2017, Science China Life Sciences.

A zinc transporter, transmembrane protein 163 (TMEM163), is critical for the biogenesis of platelet dense granules.

Quan Chen, Xiahe Huang, Yingchun Wang, 2021, Blood.

Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production

E. Sviderskaya, A. Wei, Wei Li, 2019, Journal of Cell Science.

Hermansky–Pudlak syndrome: pigmentary and non‐pigmentary defects and their pathogenesis

Wei Li, A. Wei, 2013, Pigment cell & melanoma research.

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Wei Li, A. Wei, Xiumin Yang, 2015, Journal of genetics and genomics = Yi chuan xue bao.

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

A. Wei, M. Zhang, Lin Yang, 2013, The Journal of investigative dermatology.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study.

Mervyn G. Thomas, M. Tobin, R. Hertle, 2022, Ophthalmology.

Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene

A. Wei, Yunlan Zhang, Wei Li, 2019, The Journal of dermatology.

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei Li, Wei Zhu, S. Lian, 2010, The Journal of investigative dermatology.

Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism

Zhan Qi, A. Wei, Wei Li, 2019, Chinese medical journal.

NGS‐based 100‐gene panel of hypopigmentation identifies mutations in Chinese Hermansky–Pudlak syndrome patients

A. Wei, Lin Yang, Wei Li, 2016, Pigment cell & melanoma research.

Hypopigmentation in Hermansky–Pudlak syndrome

Wei Li, A. Wei, Xin He, 2013, The Journal of dermatology.

Mutation of SLC35D3 Causes Metabolic Syndrome by Impairing Dopamine Signaling in Striatal D1 Neurons

Wei Li, J. Speakman, J. Zhao, 2014, PLoS genetics.

HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells

Chanjuan Hao, A. Wei, Zhihua Liu, 2020, Frontiers in Immunology.

Mutation of SLC 35 D 3 Causes Metabolic Syndrome by Impairing Dopamine Signaling in Striatal

Wei Li, J. Speakman, R. Spritz, 2013 .

Genetic variants and mutational spectrum of Chinese Hermansky–Pudlak syndrome patients

Zhan Qi, Tianjiao Zhang, A. Wei, 2020, Pigment cell & melanoma research.

A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation

M. Zhu, Jian Xiong, Zhan Qi, 2023, Nature Communications.

The BLOS1‐Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome‐Related Organelles

Zhe Zhang, W. Gahl, M. Huizing, 2012, Traffic.

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei Li, S. Lian, A. Wei, 2011, Journal of dermatological science.

Spectrum Analysis of Albinism Genes in A Large Cohort of Chinese Index Patients

Zhan Qi, Tianjiao Zhang, A. Wei, 2021, Journal of Investigative Dermatology.

Instability of BLOC‐2 and BLOC‐3 in Chinese patients with Hermansky‐Pudlak syndrome

Wei Li, Zhan Qi, A. Wei, 2018, Pigment cell & melanoma research.

Se´zary Syndrome Shows Whole Genome Duplication as a Late Event in Tumor Evolution

Zhan Qi, Tianjiao Zhang, A. Wei, 2022 .

Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations

Li Li, Zhan Qi, Cheng Li, 2017, Science China Life Sciences.

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene

Wei Zhu, S. Lian, A. Wei, 2014, European Journal of Dermatology.

The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population

Zhan Qi, Tianjiao Zhang, A. Wei, 2021, The Journal of dermatology.

Toxic epidermal necrosis caused by programmed cell death protein 1 inhibitors in a patient receiving chimeric antigen receptor-T cell therapy

A. Wei, Liqiang Wei, Liang Wang, 2023, Chinese medical journal.