(2022)

1.     Wang JL#, Gong JJ#, Wang QC, Tang TS, Li W*. VDAC1 negatively regulates melanogenesis through the Ca2+-calcineurin-CRTC1-MITF pathway. Life Sci Alliance, 2022; 5(10): e202101350. [Abstract]

2.     Hao CY#, Jin F#, Hao CJ, Zhang XF, Xie LM, Zhang YW, Liu XS*, Ni X*, Li W*. Evaluation of the effects on uninfected pregnant women and their pregnancy outcomes during the pandemic COVID-19 in Beijing, China. Front Med, 2022; 9: 842826. [Abstract]

3.     Huang QR#, Yuan YF#, Gong JJ, Zhang TJ, Zhang BB, Qi Z, Yang XM, Li W*, Wei AH*. Identification of a novel MLPH missense mutation in a Chinese Griscelli syndrome 3 patient. Front Med, 2022; 9: 896943. [Abstract]

4.     Xu WJ#, He HC#, Guo ZG*, Li W*. Evaluation of machine learning models on protein level inference from prioritized RNA features. Brief Bioinform, 2022; 23: bbac091. [Abstract]

5.     Li W*, Hao CJ, Hao ZH, Ma J, Wang QC, Yuan YF, Gong JJ, Chen YY, Yu JY, Wei AH*. New insights into the pathogenesis of Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res, 2022; 35(3): 290-302. [Abstract]

6.     Xiao X#, Feng GS#, Zhang YW, Liu YH, Xiang L, Yang Y, Sun H, Geng R, Liu XS, Zhang XF, Jin F, Hao CJ, Zhang YM, Zhang J, Tang LX, Wang PP, Yang XJ, Zhang W, Han Y, Ge WT*, Li W*, Ni X*. Young Children Allergic Rhinitis Questionnaire is a novel tool for allergy screening in children. Pediatr Allergy Immunol, 2022; 33(2): e13738. [Abstract]

7.     Mi X#, Lin SQ#, Zhang XF#, Li JJ, Pei LJ*, Jin F, Liao Q, Xie LM, Wei LC, Hao CJ, Zhang YW, Li W*. Maternal per-fluorinated compounds exposure and the risk of early pregnancy loss: A nested case-control study. Biomed Environ Sci, 2022; 35(2): 174-183. [Abstract]

8.     Lu JR#, Ma J#, Hao ZH, Li W*. HPS6 regulates the biogenesis of Weibel-Palade body in endothelial cells through trafficking v-ATPase to its limiting membrane. Front Cell Dev Biol, 2022; 9:743124. [Abstract]

9.     Wei A#, Zhang T#, Yuan Y, Qi Z, Bai D, Zhang Y, Zhang Y, Liu T, Huang Q, Yang X, Li W*. Spectrum analysis of albinism genes in a large cohort of Chinese index patients. J Invest Dermatol, 2022; 142(6): 1752-1755.e3. [Abstract]

10.   Hao CJ# *, Guo RL#, Hu XY#, Qi Z, Guo Q, Liu XS, Liu YH, Sun YH, Zhang XF, Jin F, Wu XJ, Cai R, Zeng DY, Hu XJ, Wang XH, Ji XP, Li WJ, Xing QS, Mu LF, Jiang XL, Yang X, Yang WM, Zhang Y, Yin QL, Ni X*, Li W*. Newborn screening with targeted sequencing: A multi-center investigation and a pilot clinical study in China. J Genet Genomics, 2022; 49(1): 13-19.[Abstract] (Cover Story)

(2021)

11.   Liu YC#, Hao CJ#, Li KC, Hu XY, Gao HM, Zeng JS, Guo RL, Liu J, Guo J, Li Z, Qi Z, Jia XL, Li W*, Qian SY*. Clinical application of exome sequencing for monogenic disorders in PICU of China. Front Genet, 2021; 12: 677699.[Abstract]

12.   Zhang Y, Liu XS, Guo RL, Xu WJ, Guo Q, Hao CJ, Ni X*, Li W*. Biological implications of genetic variations in autism spectrum disorders from genomics studies. Biosci Rep, 2021; 41(7): BSR20210593. [Abstract]

13.   Hao C# *, Guo R#, Liu J, Hu X, Guo J, Yao Y, Zhao Z, Qi Z, Yin J, Chen L, Wang H, Xu BP*, Li W*. Exome sequencing as the first-tier test for pediatric respiratory diseases: a single-center study. Hum Mutat, 2021; 42(7): 891-900. [Abstract]

14.   Li HM#, Guo J#, Jia YT, Kong W, Li W*. LOXL4 abrogation does not exaggerate angiotensin II-induced thoracic or abdominal aortic aneurysm in mice. Genes, 2021; 12(4): 513. [Abstract]

15.  Yuan YF, Liu T, Huang XH, Chen YY, Zhang WL, Li T, Yang L, Chen Q, Wang YC, Wei AH, Li W*. A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. Blood, 2021; 137(13): 1804-1817. [Abstract] (Cover Story & Commentary)

16.   Liu T#, Yuan YF#, Bai DY#, Zhang TJ, Huang QR, Qi Z, Yang L, Yang XM, Li W*, Wei AH*. The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population. J Dermatol, 2021; 48(5):676-680. [Abstract]

17.   Xiao H, Guo X, Hu B, Liu J, Zhao S, Xu Z, Zhang N, He L, Liu Y, Liu L, Li S, Li W*, Liu G*. Generalized pustular psoriasis in patients with interferon gamma (IFN-γ) receptor deficiency. J Clin Immunol, 2021; 41(4): 829-833. [Abstract]

18.   Liu T#, Yuan YF#, Bai DY, Qi Z, Yang L, Zhang TJ, Yang XM, Li W*, Wei AH*. Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients. Pigment Cell Melanoma Res, 2021; 34(1): 111-121. [Abstract]

(2020)

19.   Zhang C, Hao CJ, Shui GH*, Li W*. BLOS1 mediates kinesin switch during endosomal recycling of LDL receptor. Elife, 2020; 9: e58069. [Abstract]

20.   Liu X, Xu W, Leng F, Hao C, Kolora SRR, Li W*. Prioritizing long range interactions in noncoding regions using GWAS and deletions perturbed TADs. Comput Struct Biotechnol J, 2020; 18: 2945-2952. [Abstract]

21.   Yu JY, He X, Wei AH, Liu T, Zhang Q, Pan Y, Hao ZH, Yang L, Yuan YF, Zhang Z, Zhang C, Hao CJ, Liu ZH*, Li W*. HPS1 regulates the maturation of large dense core vesicles and lysozyme secretion in Panneth cells. Front Immunol, 2020; 11: 560110. [Abstract]

22.   Xu F, Qi H, Li JQ, Sun L, Gong JJ, Chen YY, Shen AD*, Li W*. Mycobacterium tuberculosis infection upregulates MFN2 expression to promote NLRP3 inflammasome formation. J Biol Chem, 2020; 295(51): 17684-17697. [Abstract]

23.   Li XR#, Hao ZH#, Liu XR*, Li W*. Deficiency of mouse FHR-1 homolog, FHR-E, accelerates sepsis, and acute kidney injury through enhancing the LPS-induced alternative complement pathway. Front Immunol, 2020; 11: 1123. [Abstract]

24.   Liu G#*, Xiao HJ#, Liu LL, Guo LY, Guo RL, Hu XY, Hao CJ, Gui JG, Jiao WW, Xu F, Shen AD, Li W*. Severe cases of BCGosis-susceptible PID identified by next-generation sequencing: implications for adjustment of BCG vaccination timing in China. J Genet Genomics, 2020; 47(4): 229-232. [Abstract]

25.   Xu WJ, Leng F, Liu XS, Li W*. Blood-based multi-tissue gene expression inference with Bayesian ridge regression. Bioinformatics, 2020; 36(12): 3788-3794. [Abstract]

 (2019)

26.   Fang BL#, Guo J#, Hao CJ, Guo RL, Qian SY, Li W*, Jia XL*. Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. Clin Chim Acta, 2019; 501: 131-135. [Abstract]

27.   Zhang YL, Zhang YZ, Liu T, Bai DY, Yang XM, Li W*, Wei AH*. Identification of two Chinese OCA6 patients and mutation updates of the SLC24A5 gene. J Dermatol, 2019; 46(11):1027-1030. [Abstract]

28.   Zhang Z, Gong JJ, Sviderskaya EV, Wei AH*, Li W*. Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production. J Cell Sci, 2019; 132(14): jcs232009. [Abstract]

29.   Ma J#, Wang R#, Lam SM, Zhang C, Shui G*, Li W*. Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerosis lipids. Biosci Rep, 2019; 39(2): BSR20182339. [Abstract]

30.   Wei AH#*, Yuan YF#(# co-first authors), Qi Z, Liu T, Bai DY, Zhang YZ, Yu JY, Yang L, Yang XM, Li W*. Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res, 2019; 32(3):373-380. [Abstract]