Dr. Wei Li's Laboratory
Beijing Children's Hospital, Capital Medical University

[2021-2025] (BCH, CMU)

Research Papers (#co-first authors, *corresponding author)

  1. Ma J#, Hao Z#*, Zhang Y, Li L, Huang X, Wang Y, Chen L, Yang G*, Li W*. Physical contacts between mitochondria and WPBs participate in WPB maturation. Arterioscler Thromb Vasc Biol, 2023; doi: 10.1161/ATVBAHA.123.319939. [Abstract]
  2. Wang YZ, Li W*, Wang QC*. Lysosome pH regulated H+/K+ switching channel involved in maintaining lysosomal homeostasis. FEBS J, 2023; 290(19): 4638-4640. [Abstract] (Commentary)
  3. Guo Q, Xia L, Guo R, Xu W, Zhang Y, Zhao C, Zhang P, Bai T, Ni X, Hao C, Xia K*, Li W*. Behavioural deficits of autism spectrum disorder and associations with different gene clusters: A study with the whole-genome transmission disequilibrium test. BMJ Paediatr Open, 2023, 7(1): e001930. [Abstract]
  4. Liu XS, Xu WJ, Leng F, Zhang P, Kolora SRR, Hao CJ*, Ni X*, Li W*. NeuroCNVscore: A tissue-specific tool to prioritize the pathogenicity of CNVs in neurodevelopmental disorders. BMJ Paediatr Open, 2023; 7(1): e001966. [Abstract]
  5. Zhang Y#, Li Y#, Guo RL, Xu WJ, Liu XS, Zhao CL, Guo Q, Xu WS, Ni X*, Hao CJ*, Cui YH*, Li W*. Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests. Front Genet, 2023; 14: 1108440. [Abstract]
  6. Yu C, Jia L, Hao C, Zuo B, Li W, Wang F, Guo J. A case of dilated cardiomyopathy caused by FHL2 gene variant and a literature review. Chinese J Med Genet, 2023; 40(3): 337-343. Chinese. [Abstract]
  7. Wang QC#, Wang ZG#, Wang YZ, Qi Z, Bai DY, Wang CT, Chen YY, Xu WJ, Zhu XL, Hao CJ, Zhu MX, Wei AH*, Li W*. A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation. Nat Commun, 2023; 14(1): 226. [Abstract]
  8. Wang GC, Jin F, Xie LM, Zhang XF, Zhang YW, Ni X, Li W, Zhang GJ*. Thyroid stimulating hormone levels within the trimester-specific reference intervals are correlated with non-high-density lipoprotein cholesterol and remnant cholesterol concentrations in pregnant women. Lab Med, 2023; lmac150. [Abstract]
  9. Wang Z, Xiang X, Chen Y, Qi Z, Miao C, Liu Y, Zhao X, Zhang Y, Zhang Z, Li W, Xu Z, Ma L. Different clinical features of pediatric generalized pustular psoriasis in patients with or without IL36RN variants. Dermatology, 2023; 239(2):217-226. [Abstract]
  10. Liu Z#, Tan S#, Zhou L#, Chen L, Liu M, Wang W, Tang Y, Yang Q, Chi S, Jiang P, Zhang Y, Cui Y, Qin J, Hu X, Li S, Liu Q, Chen L, Li S, Burstein E, Li W*, Zhang X*, Mo X*, Jia D*. SCGN deficiency is a risk factor for autism spectrum disorder. Signal Transduct Target Ther, 2023; 8(1): 3. [Abstract]

  11. (2022)
  12. Zhang W, Jin F, Guo R, Qi Z, Wang Y, Li X, Wu Y, Li W, Hu X, Hao C. Newborn genetic screening revealed increased levels of biochemical indicators in carriers of heterozygous variants. Genet Test Mol Biomarkers, 2022; 26(12): 573-581. [Abstract]
  13. Xiao H#, Miao Y#, Liu L, Feng W, Liu S, Guo L, Guo X, Chen T, Hu B, Hu H, Xu F, Han L, Ren L, Li W*, Liu G*. Clinical characteristics of central nervous system candidiasis albicans due to Candida albicans in children: a single-center experience. BMC Infect Dis, 2022; 22: 945. [Abstract]
  14. Zhou X, Wang LM, Jin F, Guo Y, Zhou Y, Zhang XF, Zhang YW, Ni X, Li W, Liu HH. The prevalence and risk factors for congenital hearing loss in neonates: A birth cohort study based on CHALLENGE study. Int J Pediatr Otorhi, 2022; 162: 111308. [Abstract]
  15. Chen YY#, Sun QQ#, Hao CJ, Guo RL, Wang CT, Yang WL, Zhang YD, Wang FJ, Li W, Guo J. Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy. Front Med, 2022; 9: 944950. [Abstract]
  16. Zhang WY#, Yao ZM#, Guo RL, Li HC, Zhao S, Li W, Zhang XJ, Hao CJ. Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single center study. Front Med, 2022; 9: 941468. [Abstract]
  17. Liu GL, Shi H, Zhang H, Zhou YT, Sun YJ, Li W, Huang XF, Jiang YQ, Fang YL, Yang G. Fast noninvasive morphometric characterization of free human sperms using deep learning. Microsc Microanal, 2022; 28: 1-13. [Abstract]
  18. 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]
  19. Fermie J, de Jager L, Foster HE, Veenendaal T, de Heus C, van Dijk S, ten Brink C, Oorschot V, Yang L, Li W, Muller WH, Howes S, Carter AP, Forster F, Posthuma G, Gerritsen H, Klumperman J, Liv N. Bimodal endocytic probe for three-dimensional correlative light and electron microscopy. Cell Rep Methods, 2022; 2: 100200. DOI: https://doi.org/10.1016/j.crmeth.2022.100220.
  20. Zhang XF, Liu HR, Xie LM, Li W*. Impact of paternal body mass index on assisted reproduction treatment outcomes: an updated systematic review and meta-analysis. J Obst Gynaecol Res, 2022; 48(8):2071-2092. [Abstract]
  21. 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]
  22. 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]
  23. 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]
  24. 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]
  25. Kuht HJ, Maconachie GD, Han J, Kessel L, Van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi J-H, Tobin MD, Sheth BMedSci V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arvelier B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG, Genotypic and phenotypic spectrum of foveal hypoplasia: A multicentre study. Ophthalmology, 2022; 129(6): 708-718. [Abstract]
  26. 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]
  27. 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]
  28. 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]
  29. 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]
  30. 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)

  31. (2021)
  32. Chen YY#, Fang BL#, Hu XY, Guo RL, Guo J, Fang KN, Ni JW, Li W, Qian S, Hao C. Identification and functional analysis of novel SLC25A19 variants causative for thiamine metabolism dysfunction syndrome 4. Orphanet J Rare Dis, 2021; 16(1): 403. [Abstract]
  33. Hao ZH, Li W*. Identification of muted-interacting proteins by GST pull-down and mass spectrometry. J Med Mol Biol, 2021, 18 (6): 409-414. Chinese.
  34. 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]
  35. 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]
  36. Jia LJ#, Chen YY#, Hao CJ, Guo RL, Liu YJ, Li W, Guo J, Feng YJ. Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy. Chinese J Med Genet, 38(8):731-734. Chinese. [Abstract]
  37. 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]
  38. 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]
  39. 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: Mammadova-Bach E, Braun A. Platelet life without TMEM163: no dense granules. Blood. 2021; 137(13): 1708-1709. PMID:33792677)
  40. 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]
  41. 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]
  42. Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, Guo R, Li W, Hao C. Whole exomes sequencing for non-selective pediatric patients with familial hyperlipidemia. Gene, 2021; 768: 145310. [Abstract]
  43. 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]

[2016-2020] (BCH, CMU)

Research Papers (#co-first authors, *corresponding author)

  1. Zhang C, Hao CJ, Shui GH*, Li W*. BLOS1 mediates kinesin switch during endosomal recycling of LDL receptor. Elife, 2020; 9: e58069. [Abstract]
  2. 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]
  3. 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]
  4. 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]
  5. Chen LM, Hao CJ, Chen YY, Hu XY, Gong CS, Li W*. Discovery of a novel variant of lipoprotein lipase gene in familial lipoprotein lipase deficiency based on the whole exome sequencing and its functional study. J Cardiovasc Pulmon Dis, 2020; 39(8): 999-1005. Chinese.
  6. Hu X, Wu D, Li Y, Wei L, Li X, Qin M, Li H, Li M, Chen S, Gong C, Shen Y. The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy. BMC Med Genomics. 2020;13(1): 181. [Abstract]
  7. 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]
  8. Hu XY, Guo RL, Guo J, Qi Z, Li W, Hao CJ. Parallel tests of whole exome sequencing and copy number variant sequencing increase the diagnosis yields of rare pediatric disorders. Front Genet, 2020; 11.473. [Abstract]
  9. 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]
  10. 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]
  11. Zhao H, Yang Y, Pan XD, Li W, Sun LZ, Guo J. Identification of clinically relevant variants by whole exome sequencing in Chinese patients with sporadic non-syndromic type A aortic dissection. Clin Chim Acta, 2020; 506(7): 160-165.[Abstract]
  12. Yang Z#, Qi Z#, Xu Z, Li W, Ma L. Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. Pediatr Investig, 2020; 4(1): 51-54. [Abstract]
  13. Sun Q#, Guo J#, Hao C, Guo R, Chen Y, Yang W, Li W*, Feng Y*. Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy. Pediatr Investig, 2020; 4(1): 11-16. [Abstract](Featured in Editorial: Gaertner A, Klauke B, Brodehl A, Milting H. RBM20 mutations in left ventricular non-compaction cardiomyopathy. Pediatr Investig, 2020; 4(1): 61-63. [Abstract])
  14. Li W*, Wei AH, Bai DY, Qi Z, Hao CJ. Guidelines for clinical practice of albinism. Chinese J Med Genet, 2020; 37(3): 252-257. Chinese. [Abstract]

  15. (2019)
  16. Hu X#, Liu J# (# co-first authors), Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C. A novel 14q13.1-21.1 deletion identified by CNV-seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. Mol Cytogenet, 2019; 12: 51.[Abstract]
  17. Fang BL#, Guo J# (# co-first authors), 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]
  18. Liu J#, Hu XY# (# co-first authors), Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP. Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. BMC Med Genet, 2019; 20(1): 182. [Abstract]
  19. Fu Q, Wang H, Qi Z, Zhang YX. Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report. Am J Med Genet, 2019; 179A: 285–289. [Abstract]
  20. Hu X, Guo R, Guo J, Li W, Liu L, Hao C. Genetic study of the first case report of Nicolaides-Baraitser syndrome with SMARCA2 gene mutation in China. Chinese J Med Genet, 2019; 36(12): 1187-1190. Chinese. [Abstract]
  21. Leng F, Li W*. Classification prediction of lung adenocarcinoma and squamous carcinoma based on XGBoost. J Capital Med Univ, 2019; 40(6): 889-893. Chinese.
  22. Xu WJ, Li W*. Building a prediction model of brain tissues gene expression based on whole blood gene expression profiles. J Capital Med Univ, 2019; 40 (5): 731-737. Chinese.
  23. 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]
  24. Li Q#, Guo R# (# co-first authors), Gao L, Cui L, Zhao Z, Yu X, Yuan Y, Xu X*. CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia. Mol Genet Genom Med, 2019; 7(11): e949. [Abstract]
  25. Zhang YZ, Bai DY, Qi Z, Zhao SZ, Yang XM, Li W, Wei AH. Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism. Chinese Med J (Engl), 2019; 132(16):2011-2012. [Abstract]
  26. Zhang W, Ma Q, Siraj S, Ney PA, Liu J, Liao X, Yuan Y, Li W, Liu L, Chen Q. Nix-mediated mitophagy regulates platelet activation and life span. Blood Adv, 2019; 3(15):2342-2354. [Abstract]
  27. Guo J#, Li Z# (# co-first authors), Hao C, Guo R, Hu X, Qian S, Zeng J, Gao H*, Li W*. A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy, left ventricular non-compaction cardiomyopathy, and sudden cardiac arrest. Mol Genet Genom Med, 2019; 7(8):e828. [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. Liu XS, Li W*. Mining and characterization of preterm birth related genes. Heraditas (Beijing), 2019; 41(5): 413-421. Chinese.
  30. Zhang P#, Hu X# (# co-first authors), Guo R, Guo J, Li W, Qian S, Hao C, Liu J. Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Pediatr Investig, 2019; 3(2): 86-90.[Abstract]
  31. Zhang BB, Song YN, Li W, Gong CS. Variant analysis of the chromodomain helicase DNA-binding protein 7 in pediatric disorders of sex development. Pediatr Investig, 2019; 3(1): 31-38.[Abstrac]
  32. Ma J#, Wang R# (# co-first authors), 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]
  33. Chen YY, Hao ZH, Li W*. Molecular and cellular mechanism of vesicle trafficking. Chinese J Cell Biol, 2019; 41(1): 3-12. Chinese. (cover story and commentary)
  34. 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]

  35. (2018)
  36. Chen Y, Yuan Y, Li W*. Sorting machineries: how do platelet dense granules differ from α-granules. Biosci Rep, 2018; 38(5): BSR20180458. [Abstract]
  37. Hao CJ, Guo J, Guo RL, Li W*, Ni X*. Compound heterozygous variants in POR identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency. Pediatr Investig, 2018; 2(2): 90-95.[Abstract]
  38. Chen YY#, Zhang PF# (# co-first authors), Guo J, Guo RL, Li W, Qian SY, Jia XR, Hao CJ. Whole-exome sequencing identifies a de novo mutation in BTK. Chinese J Birth Health Hered, 2018; 26(12): 7-10. Chinese.
  39. Gong JJ, Liu HM, Li W*, Tang TS*. The RNA binding protein RBM45 functions in DNA damage response. J Med Mol Biol, 2018; 15 (6): 369-372. Chinese.
  40. Hu X, Wu D, Li M, Chen J, Li X, Su C, Chen S, Shen Y, Gong C. Gene Mutations and Clinical Phenotypes in Three Families with Short Stature and Brachydactyly and Review of Literature. J Capital Med Univ, 2018; 39(6): 937-944. Chinese.
  41. Hao CJ, Chen LM, Guo J, Guo RL, Tang HX*, Li W*. Whole-exome sequencing in Noonan syndrome identifies a de novo mutation in BRAF. J Cardiovasc Pulmon Dis, 2018; 37(7): 27-32. Chinese.
  42. Guo R, Li W*. Exome sequencing identifies a case with Cornelia de Lange. Chinese J Birth Health Hered, 2018; 26(1): 26-28. Chinese.
  43. Kang H, Zhang M, Ouyang M, Guo R, Yu Q, Peng Q, Zhang N, Zhang Y, Duan Y, Tang X, Virendra M, Fang F, Li W, Huang H, Peng Y. Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. Eur J Radiol, 2018;102:22-29. [Abstract]
  44. Jia J, An Z, Ming Y, Guo Y, Li W, Li X, Liang Y, Guo D, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T. PedAM: a database for Pediatric Disease Annotation and Medicine. Nucleic Acids Res, 2018; 46(D1):D977-D983. [Abstract]
  45. Jia J, An Z, Ming Y, Guo Y, Li W, Liang Y, Guo D, Li X, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T. eRAM: encyclopedia of rare disease annotations for precision medicine. Nucleic Acids Res, 2018; 46(D1):D937-D943. [Abstract]
  46. Truman-Rosentsvit M, Berenbaum D, Spektor L, Cohen LA, Belizowsky-Moshe S, Lifshitz L, Ma J, Li W, Kesselman E, Abutbul-Ionita I, Danino D, Gutierrez L, Li H, Li K, Lou H, Regoni M, Poli M, Glaser F, Rouault TA, Meyron-Holtz EG. Ferritin is secreted via two distinct non-classical vesicular pathways. Blood, 2018; 131(3):342-352. [Abstract]

  47. (2017)
  48. Qi Z, Shen Y, Fu Q, Li W, Yang W, Xu WS, Chu P, Zhang YX, Wang H. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedle syndrome. Sci China Life Sci, 2017; 60(7): 739-745. [Abstract]
  49. Bai DY, Shi W, Qi Z, Li W, Wei AH, Cui YH, Li C, Li L. Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations. Sci China Life Sci, 2017; 60(7): 707-713. [Abstract]
  50. He QP, Gao SW, Lv JH, Li W, Liu F. BLOS2 maintains hematopoietic stem cells in the fetal liver via repressig Notch signaling. Exp Hematol, 2017; 51: 1-6.e2. [Abstract]

  51. (2016)
  52. Zhang W, Ren H, Xu C, Zhu C, Wu H, Liu D, Wang J, Liu L, Li W, Ma Q, Du L, Zheng M, Zhang C, Liu J, Chen Q. Hypoxic mitophagy regulates mitochondrial quality and platelet activation and determines severity of I/R heart injury. Elife, 2016; 5: e21407. [Abstract]
  53. Ma J, Zhang Z, Yang L, Kriston-Vizi J, Cutler DF*, Li W*. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. J Genet Genomics, 2016; 43(12): 686-693. [Abstract]
  54. Zhou W#, He Q# (# co-first authors), Zhang C, He X, Liu F*, Li W*. BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development. Elife, 2016; 5: e18108. [Abstract]
  55. Wei AH*,#, Yuan YF#, Bai DY# (# co-first authors), Ma J, Hao ZH, Zhang YZ, Yu JY, Zhou ZY, Yang L, Yang XM, Li L, Li W*. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermasky-Pudlak syndrome patients. Pigment Cell Melanoma Res, 2016; 29(6): 702-706. [Abstract]
  56. Hao ZH, Li W*. Muted protein is involved in the targeting of CD63 to large dense core vesicles of chromaffin cells. Heraditas (Beijing), 2016; 38(8): 718-724. [Chinese] [Abstract]
  57. Wei ZB#, Yuan YF# (# co-first authors), Jaouen F, Ma MS, Hao CJ, Zhang Z, Chen Q, Yuan ZQ, Yu L, Beurrier C, Li W*. SLC35D3 increases autophagic activity in mid-brain dopaminergic neurons by enhancing the BECN1-ATG14-PIK3C3 complex formation. Autophagy, 2016; 12(7): 1168-1179. [Abstract]
  58. Klionsky DJ, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy, 2016; 12(1): 1-222. [Abstract]

Book Chapters

  1. Ma L, Xu ZG (editors-in-chief), Xing F, Sun YJ, Li W. Color Atlas of Pediatric Skin Disorders. Beijing: People's Health Publisher. 2017. [Chinese]
  2. Li W, Ya D (Editors-in-chief). Genetics in Cartoon. Beijing: People's Health Publisher. 2016. [Chinese]

International Meeting Abstracts

  1. Zhang Z, Gong JJ, Sviderskaya EV, Wei AH, Li W. Mitochondrial NCKX5 Regulates Calcium Efflux and Functions in Melanosome Maturation and Pigment Production. Gordon Research Conference: Organellar Channels and Transporters. West Dover, VT, USA, 2019. [poster]
  2. Guo RL, Hao CJ, Qian SY, Li W. Novel ABCC9 missense mutation in a Chinese infant with Cantu syndrome without skeletal manifestations. European Human Genetics Conference. Gothenburg, Sweden, 2019. [poster]
  3. Hao CJ, Guo J, Guo RL, Li W. Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. European Human Genetics Conference. Gothenburg, Sweden, 2019. [poster]
  4. Li W.Mitochondrial calcium transfer to lysosome-related organelles. Bioscience Reports Symposium, Singapore, 2018. [invited]
  5. Zhang Z, Wei AH, Sviderskaya EV, Li W. NCKX5 facilitates mitochondrion-to-melanosome calcium transfer to regulate melanosomal biogenesis and pigment production. IPCC Denver, CO, USA, 2017. [oral]
  6. Wei AH, Ma J, Yuan YF, Bai DY, Cutler DF, Li W. Mutations in Chinese Hermansky-Pudlak Syndrome Patients and The Consideration for Precise Intervention. IPCC Denver, CO, USA, 2017. [oral]
  7. Li W. Mouse Mutants of Lysosomal Trafficking Diorders. 2017 International Symposium on Animal Models of Diseases. Beijing, China, 2017. [invited]
  8. Wei A, Yuan Y, Bai D, Ma J, Zhou Z, Hao Z, Yu J, Zhang Y, Yang L, Yang X, Li L, Li W. Novel mutations in HPS1, 3, 5, 6 in Chinese Hermansky-Pudlak syndrome patients identified by NGS-based panel of hypopigmentation (#2541). 2016 Annual Meeting of American Society of Human Genetics. Vancouver, Canada. [poster]
  9. Hao Z, Li W, Liu X. Mutations of CFHR genes in Chinese atypical hemolytic uremic syndrome (aHUS) with CFH autoantibody positive (#2324). 2016 Annual Meeting of American Society of Human Genetics. Vancouver, Canada. [poster]

Patents or Copyrights

  1. Dai LL, Liu XZ, Li W, Wei AH. SLC24A5 Mutant and Its Application. (CN201310016429.5)

[2011-2015] (IGDB, CAS)

Research Papers (*corresponding author)

  1. Zhen YL, Li W*. Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A (D251E) mutation. Autophagy, 2015; 11(9): 1608-1622. [Abstract]
  2. Wei AH*, Zang DJ, Zhang Z, Yang XM, Li W*. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. J Genet Genomics, 2015; 42(6): 279-286. [Abstract]
  3. Hao Z, Wei L, Feng Y, Chen X, Du W, Ma J, Zhou Z, Chen L, Li W*. Impaired maturation of large dense core vesicles in muted-deficient adrenal chromaffin cells. J Cell Sci, 2015; 128(7): 1365-1374. [Abstract]
  4. Yuan Y, Wang H, Wei Z, Li W*. Impaired autophagy in hilar mossy cells of the dentate gyrus and its implication in schizophrenia. J Genet Genomics, 2015; 42(1): 1-8. [Abstract] (Cover Story)

  5. (2014)
  6. Wang H, Yuan Y, Zhang Z, Yan H, Feng Y, Li W*. Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus. J Biol Chem, 2014; 289(42): 29060-29072. [Abstract] (Papers of the Week in JBC)
  7. Zhang A#, He X# (# co-first authors), Zhang L, Yang L, Woodman P, Li W*. Biogenesis of lysosome-related organelles complex-1 subunit 1 (BLOS1) interats with sorting nexin 2 and the endosomal sorting complex required for transport-I (ESCRT-I) component TSG101 to mediate the sorting of epidermal growth factor receptor into endosomal compartments. J Biol Chem, 2014; 289(42): 29180-29194. [Abstract]
  8. Li K, Yang L, Zhang C, Niu Y, Li W, Liu JJ. HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. J Cell Sci, 2014; 127(21): 4574-4588. [Abstract]
  9. Lin YY#, Wei AH# (# co-first authors), He X, Zhou ZY, Lian S, Zhu W. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. Eur J Dermatol, 2014; 24(2): 168-173. [Abstract]
  10. Zhang Z#, Hao CJ# (# co-first authors), Li CG, Zang DJ, Zhao J, Li XN, Wei AH, Wei ZB, Yang L, He X, Zhen XC, Gao X, Speakman JR, Li W*. Mutation of SLC35D3 causes metabolic syndrome by impairing dopamine signaling in striatal D1 neurons. PLoS Genet, 2014; 10(2): e1004124. [Abstract] [Featured Article in PLoS G] [Media Coverage List] [CCTV News] [BBC News]
  11. Montoliu L, Gronskov K, Wei A, Martinez-Garcia M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed Z, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res, 2014; 27(1): 11-18.[Abstract]

  12. (2013)
  13. Wei AH*,#, Zang DJ#, Zhang Z#, Liu XZ# (# co-first authors), He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W*. Exome sequencing identifies SLC24A5 as a candidate gene for non-syndromic albinism. J Invest Dermatol, 2013; 133(7): 1834-1840. [Abstract]
  14. Wei AH*, Li W*. Hermansky-Pudlak syndrome: Pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res, 2013; 26(2): 176-192. [Abstract] (Featured on MDLinx.com)
  15. Wei AH, Yang XM, Lian S, Li W. Genetic analyses of Chinese patients with digenic oculocutaneous albinism. Chin Med J (Engl), 2013; 126(2):226-230. [Abstract] (Featured on MDLinx.com)
  16. Wei AH, He X, Li W*. Hypopigmentation in Hermansky-Pudlak syndrome (Invited Review). J Dermatol, 2013; 40(5): 319-324. [Abstract] (Featured on MDLinx.com).

  17. (2012)
  18. Meng R, Wang Y, Yao Y, Zhang Z, Harper DC, Heijnen HFG, Sitaram A, Li W, Raposo G, Weiss MJ, Poncz M, Marks M. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and differentially defective in Hermansky-Pudlak syndrome models. Blood, 2012; 120(2): 404-414. [Abstract]
  19. Yang Q, He X*, Yang L, Zhou ZY, Cullinane AR, Wei AH, Zhang Z, Hao ZH, Zhang AL, He M, Feng YQ, Gao X, Gahl WA, Huizing M, Li W*. The BLOS1 interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic, 2012; 13(8): 1160-1169. [Abstract]
  20. Li HT, He X, Zhou ZY, Zhao SH, Zhang WX, Liu G, Zhao ZS, Jia B. Expression levels of Slc7a11 in the skin of Kazakh sheep with different coat colors. Heraditas (Beijing), 2012; 34(10): 1314-1319. [Chinese] [Abstract]
  21. Li XJ, Li W. Beyond mice: Genetically modifying larger animals to model human diseases (Editorial). J Genet Genomics, 2012; 39(6): 237-238. [Abstract]
  22. He X#, Li HT# (# co-first authors), Zhou ZY, Zhao ZS, Li W*. Production of brown/yellow coat color patches in the SLC7A11 transgenic sheep via testicular injection of transgene. J Genet Genomics, 2012; 39(6): 281-285. [Abstract]
  23. Li Y, Tan Z, Li Z, Sun Z, Duan S, Li W*. Impaired long-term potentiation and long-term memory deficits in xCT-deficient sut mice. Biosci Rep, 2012; 32(3): 315-321. [Abstract]
  24. Wang L#, He F#, Bu J#, Zhen Y# (# co-first authors), Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. ABCB6 mutations cause ocular coloboma. Am J Hum Genet, 2012; 90(1): 40-48. Erratum: AJHG, 2012; 91(2): 397. [Abstract]
  25. Chen G, Zhang Z, Wei Z, Cheng Q, Li X, Li W, Duan S, Gu X. Lysosomal exocytosis in Schwann cells contributes to axon remyelination. Glia, 2012; 60(2): 295-305. [Abstract]

  26. (2011)
  27. Lin YY, Wei AH, Zhou ZY, Zhu W, He X, Lian S. A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. Chin Med J (Engl), 2011; 124(20): 3358-3361. [Abstract]
  28. Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H. Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet, 2011; 89(1): 56-66. [Abstract]
  29. Wei A, Yang X, Lian S, Li W*. Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. J Dermatol Sci, 2011; 62(2): 124-127. [Abstract]

Book Chapters

  1. Du CS (Editor-in-chief), Li W#, Huang SZ#, Hua XY# (# associate editors). Medical Genetics (3rd edition). Beijing: People's Health Publisher. 2014. [Chinese]

International Meeting Abstracts

  1. Li W. SLC24A5 Mutation Causes OCA6. The 22nd International Pigment Cell Conference. Singapore, 2014. [invited]
  2. Zhang AL, He X, Woodman P, Li W. BLOS1 Interacts with SNX2 and TSG101 to Mediate Sequential Sorting of EGFR into Endosomal Compartments. Zing Conferences on Lysosome-Related Organelles. Nerja, Spain, 2014. [oral]
  3. Ma J, Yang L, Zhang Z, Dan Cutler, Li W. BLOC Deficiency Affects the Maturation and Exocytosis of Weibel-Palade Bodies in Vascular Endothelial Cells. Zing Conferences on Lysosome-Related Organelles. Nerja, Spain, 2014. [oral]
  4. Wei AH, Zang DJ, Zhang Z, Zhou ZY, Sviderskaya EV, Li W. Aberrant Localization and Trafficking of Melanosaml Proteins in Chinese OCA Patients. Zing Conferences on Lysosome-Related Organelles. Nerja, Spain, 2014. [oral]
  5. Hao ZH, Li W. The MUTED Protein is Involved in the Biogenesis of Large Dense Core Vesicles in Adrenal Chromaffin Cells. Zing Conferences on Lysosome-Related Organelles. Nerja, Spain, 2014. [poster]
  6. Li W. BLOC-1 Modulates EGF Signal Transduction through Endo-Lysosomal Trafficking. The 16th Asia-Pacific International Molecular Biology Network (A-IMBN) Annual Conference 2013, Singapore, 2013. [invited]
  7. Li W. Aging Related Defects in Lysosomal Trafficking Disorders. The 4th Sino-Australia Biomedicine Conference. Hangzhou, China, 2013. [invited]
  8. Li W The endosomal protein SLC35D3 regulates the membrane trafficking of D1 dopamine receptor. The 3rd International Symposium on Membrane Biology. Zhuhai, China, 2012. [invited]
  9. Li W. Altered membrane trafficking of striatonigral D1 receptor results in metabolic syndrome. The 17th International Biophysics Congress. Beijing, China, 2011. [invited]
  10. Li W. Blos4 is a novel subunit of the biogenesis of lysosome-related organelles complex-1 (BLOC-1). Gordon Research Conference: Molecular Membrane Biology. Andover, NH, USA, July, 2011 [poster]
  11. Wei A, Wang Y, Li W. An optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. Pigment Cell Melanoma Res, 24(4): 812, 2011 [oral]
  12. Li W. Mouse models of albinism: insights into defects in development and trafficking. CAS International Symposium on Animal Models of Diseases. Beijing, China, 2011 [invited]

[2005-2010] (IGDB, CAS)

Research Papers (*corresponding author)

  1. Cui YY, Li XG, Chen QG, He X, Yang Q, Zhang AL, Yu X, Chen H, Liu NY, Xie Q, Yang WC, Zuo JR, Palme K*, Li W*. BLOS1, a putative BLOC-1 subunit, interacts with SNX1 and modulates root growth in Arabidopsis. J Cell Sci, 2010; 123(21): 3727-3733. [Abstract] [JCS Recommendation]
  2. Hao ZH, Li W*. Cellular functions of the lysosomal trafficking. Chinese Bull Life Sci , 2010; 23(11): 1138-1146. [Chinese]
  3. Liu XL, Zhang FL, Zhou ZY, Zhao HL, Shen GM, Baohan WY, Duan ZY, Li W*, Zhang JW*. Analysis of two sequence variants in peroxisome proliferator activated receptor gamma gene in Tibetan population at high altitudes and Han population at low altitudes in China. Med Sci Monit, 2010; 16(10): CR458-463. [Abstract]
  4. Zeng Y, Li Y, Chen RS, He X, Yang L*, Li W*. Overexpression of xCT induces upregulation of 14-3-3beta in Kaposi's sarcoma. Biosci Rep, 2010; 30(4): 277-283. [Abstract]
  5. Guo XL, Ruan HB, Li Y, Gao X, Li W*. Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. Pigment Cell Melanoma Res, 2010; 23(2): 252-262. [Abstract]
  6. Wei AH#, Wang Yu#, Long Y#, Wang Yi# (# co-first authors), Guo XL, Zhou ZY, Zhu W, Liu JT, Bian XM, Lian S*, Li W*. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol, 2010; 130(3): 716-724. [Abstract] (Featured on MDLinx.com)
  7. Liu XL, Zhang FL, Zhou ZY, Zhao HL, Shen GM, Baohan WY, Duan ZY, Li W*, Zhang JW*. Analysis of two sequence variants in peroxisome proliferator activated receptor gamma gene in Tajik population at high altitudes and Han population at low altitudes in China. Mol Biol Rep, 2010; 37(1): 179-184. [Abstract]

  8. (2009)
  9. Wei AH, Lian S, Wang LJ, Li W*. The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. J Dermatol Sci, 2009; 56(2):130-132. [doi:10.1016/j.jdermsci.2009.07.007]
  10. Feng YQ, Li W. Susceptibility genes of schizophrenia. J Med Mol Biol, 2009; 6(6): 555-558. [Chinese]
  11. Zhang Z, Li W*. Formation and function of Weibel-Palade bodies. Hereditas (Beijing), 2009; 31(9): 882-888. [Chinese] [Abstract]
  12. He M#, Wang Y# (# co-first authors), Li W*. PPI Finder: A mining tool for human protein-protein interactions. PLoS ONE, 2009; 4(2):e4554. [Abstract]
  13. Chen RS, Song YM, Zhou ZY, Tong T, Li Y, Fu M, Guo XL, Dong LJ, He X, Qiao HX, Zhan QM*, Li W*. Disruption of xCT inhibits cancer cell metastasis via the caveolin-1/beta-catenin pathway. Oncogene, 2009; 28(4): 599-609. [Abstract]
  14. Wang Y, Guo XL, Wei AH, Zhu W, Li W*, Lian S*. Identification of a novel mutation in a Chinese family with X-linked ocular albinism. Eur J Ophthalmol, 2009; 19(1): 124-128. [Abstract]
  15. Wang Y, Guo XL, Li W*, Lian S*. Four novel mutations of TYR gene in Chinese OCA1 patients. J Dermatol Sci, 2009; 53(1): 80-81. [doi:10.1016/j.jdermsci.2008.07.002]

  16. (2008)
  17. Feng YQ, Zhou ZY, He X, Wang H,Guo XL, Hao CJ, Guo Y, Zhen XC, Li W*. Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia. Schizophr Res, 2008; 106(2-3): 218-228. [Abstract]
  18. Chen XW#, Feng YQ# (# co-first authors), Hao CJ, Guo XL, He X, Zhou ZY, Guo N, Huang HP, Xiong W, Zheng H, Zuo PL, Zhang X, Li W*, Zhou Z*. DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release. J Cell Biol, 2008; 18(5): 791-801. [Abstract] [highlighted news in JCB] [research highlights in Nature China]
  19. Qiao HX, Hao CJ, Li Y, He X, Chen RS, Cui J, Xu ZH*, Li W*. JNK activation mediates the apoptosis of xCT-deficient Cells. Biochem Biophys Res Commun, 2008; 370(4): 584-588. [Abstract]
  20. Reeve SP, Lin XD, Sahin HB, Jiang FF, Yao AY, Liu ZH, Li W, Giangrande A, Hassan BA, Zhang YQ. Mutational analysis establishes a critical role for the N terminus of Fragile X mental retardation protein FMRP. J Neurosci, 2008; 28(12): 3221-3226. [Abstract]

  21. (2007)
  22. Li W*, Feng YQ, Hao CJ, Guo XL, Cui YY, He M, He X. The BLOC interactomes form a network in endosomal transport. J Genet Genomics, 2007; 34(8): 669-682. [Abstract] [PDF]
  23. He M, Li W*. PediDraw: A web-based tool for drawing a pedigree in genetic counseling. BMC Med Genet, 2007; 8:31. [ Abstract]
  24. He M, Li W*. China genetic counseling network (CGCN): A website on genetic counseling and genetic education. Hereditas (Beijing), 2007; 29(3): 381-384. [Chinese] [Abstract]
  25. Chintala S, Tan J, Gautum R, Rusiniak M, Guo XL, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet dense granules. Blood. 2007; 109(4): 1533-1540. (with commentary) [Abstract]

  26. (2006)
  27. Li W*, He M, Zhou HL, Bourne JW, Liang P. Mutational data integration in gene-oriented files of Hermansky-Pudlak syndrome database. Hum Mutat, 2006, 27(5): 402-407. [Abstract]

  28. (2005)
  29. Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park Y-M, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 controls the production of pheomelanin pigment and the proliferation of cultured cells. Proc Natl Acad Sci USA, 2005, 102 (31): 10964-10969. [Abstract] [PDF]

Book Chapter

  1. Li W. Genetics of intracellular traffic jams: multi-organellar defects. In Deng HW, Shen H, Liu YJ, Hu H. eds. Current Topics in Human Genetics: Studies in Complex Diseases. World Scientific Publishing Co. Pte. Ltd. 2007; 929-943.

Patents or Copyrights

  1. Li W, Wang Y. A Mutation Conversion Tool (v. 1.0). (2009SRBJ7775)
  2. Li W, He M, Wang Y. PPI Finder: Protein-Protein Interaction Text Mining Software (v. 1.0). (2008SRBJ2159)
  3. Li W, Qiao HX, Li Y, Ke ZJ, Xu ZH. New Roles of the Gene Encoding xCT. (ZL 200610089373.6)
  4. Li W, He M. PediDraw: Online Pedigree Drawing Software (v. 1.0). (2006SRBJ2033)

International Meeting Abstracts

  1. Li Y, Li W. Impaired long-term plasticity in the mice lacking xCT, a subunit of cystine/glutamate transporter. The Second International Symposium on Membrane Biology. Ningbo, China. p.71, 2010 [oral]
  2. Li W, Wei A, Wang Y. Online genetic counseling for albinism in China. The 9th Asia Pacific Conference on Human Genetics. Hong Kong, China. p.p. 76-77, 2010 [invited]
  3. Li W. AtBLOS1, a putative BLOC-1 subunit, interacts with AtSNX1 and modulates auxin efflux transporters and root growth in Arabidopsis. Gordon Research Conference--Lysosomes & Endocytosis (#55). Andover, USA, 2010 [poster]
  4. Li W, Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Bian X, Lian S. The spectrum of mutational genes and alleles in Chinese OCA patients. The 59th Annual Meeting of The American Society of Human Genetics (#441). Honolulu, USA, 2009 [poster]
  5. Li Y, Chen RS, Qiao HX, Li W. Glutamate/cystine antiporter system xc- in regulating pigment biogenesis, cell proliferation and invasion, neuronal function. Amino Acids, 37(Suppl. 1): S20-S21, 2009 [oral]
  6. Li W. Novel interactions and functions of biogenesis of lysosome-related organelles complex-1 (BLOC-1). The First International Symposium on Membrane Biology. Guilin, China. p.p. 24-25, 2009 [invited]
  7. Li W, Wang Y, Guo XL, Lian S. Three novel mutations of TYR gene in Chinese OCA1 patients. Pigment Cell Melanoma Res, 21(2): 311-312, 2008 [poster]
  8. Li W, Guo XL, Gao X. A novel ENU-derived mouse model of Waardenburg syndrome and its genetic interaction. Pigment Cell Melanoma Res, 21(2): 309, 2008 [poster]
  9. Feng YQ, Chen XW, Hao CJ, Guo XL, Zhang X, Guo Y, Zhen XC, Zhou Z, Li W. Genes in regulating the biogenesis of lysosome-related organelles. Prog Biochem Biophys, 34 (Suppl. 1): 36, 2007 [invited]
  10. Qiao HX, Hao CJ, Li Y, Cui J, Xu ZH, Li W. JNK pathway activation modulates ER stress and oxidative stress during the apoptosis of xCT-deficient cells. Prog Biochem Biophys, 34 (Suppl. 1): 80, 2007 [poster]
  11. Feng Y, He M, Hao C, Guo X, Cui Y, He X, Li W. The BLOC-1 interactome in endosomal transport. The American Society for Cell Biology and European Cytoskeleton Forum (#58). Dijon, France. p.30, 2007 [poster]
  12. Li W. Systems biology techniques in dissecting intracellular vesicle trafficking pathways. International Conference on Bio-Nano-Informatics Fusion 2006. Beijing, China. p.p. 23-25, 2006 [invited]
  13. Li W. He M, Zhou HL, Bourne JW, Liang P. Data integration in gene-oriented files of Hermansky-Pudlak syndrome database. 11th International Congress of Human Genetics (#1498). Brisbane, Australia. p.263, 2006 [poster]
  14. Gautam R, Rusiniak ME, Chintala S, Tan J, Li W, Novak EK, Reddington M, Swank RT, McGarry MP. A new gene which regulates platelet dense granules. Blood, 106 (11): 615A, 2005 [poster]
  15. Li W. Cystine/Glutamate Transporter in Regulating Oxidative Stress. 3rd Beijing International Symposium on Neurodegenerative Diseases and Stroke. Beijing, China. p.252, 2005 [invited]
  16. Li W. Murine Models of Hermansky-Pudlak Syndrome in Dissecting Intracellular Vesicle Trafficking Pathways. World DNA and Genome Day. Dalian, China. p.p. 31-32, 2005 [invited]

[1999-2004] (RPCI, USA)


  1. Li W, Rusiniak M, Chintala S, Gautum R,Novak EK, Swank RT. Murine Hermansky-Pudlak syndrome:Genes which control lysosome-related organelles. BioEssays,2004, 26 (6): 616-628 (featured with cover story) [Abstract] [PDF]
  2. Gautum R, Chintala S, Li W, Zhang Q, Tan J,Di Pietro SM, Dell'Angelica EC, Novak EK, Swank RT.The Hermansky-Pudlak syndrome 3 (cocoa) protein is acomponent of the biogenesis of lysosome-related organelle complex 2 (BLOC-2). J Biol Chem, 2004, 279(13): 12935-12942 [Abstract] [PDF]
  3. Zhang L, Li S, Zhao C, Peng PJ, Huang PY, Li W. Correlation between plasma EBV DNA and tumor recurrence in nasopharyngeal carcinoma. Chinese Clin Oncol, 2004; 9(2):122-125. [Chinese]
  4. Rui DR, Yan ZH, Li W, He YS. Detection of alpha-thelassemia by multiplex PCR. Chinese J Clin Lab Sci, 2004; 22(3):186-187. [Chinese]
  5. Li W*, Zhang Q*, Oiso N* (*co-first authors), Novak EK, Gautum R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Boe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra VS, Kingsmore SF, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet, 2003, 35 (1): 84-89 [Abstract]
  6. Zhang Q*, Zhao B*, Li W*, Oiso N* (*co-first authors), Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet, 2003; 33(2): 145-153 (Article) [Abstract]
  7. Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS. Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene. Chinese J Med Genet, 2003; 20(1):19-22. [Chinese] [Abstract]
  8. Zhang Q, Zhen L, Li W, Novak EK, Collinson LM, Jang EK, Haslam R, Elliott RW, Swank RT. Cell specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse. Br J Hematol,2002; 117(2): 414-423 [Abstract]
  9. Zhang Q*, Li W* (*co-first authors), Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet 2002; 11(6): 697-706 [Abstract] [PDF]
  10. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet, 2002; 30(3): 321-324 [Abstract]
  11. Suzuki T*, Li W* (*co-first authors),Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics, 2001; 78(1/2): 30-37 [Abstract]
  12. Li W, Elliott RW, Novak EK, Swank RT. cDNA sequence and mapping of the mouse Copb gene encoding the beta subuint of COPI coatomer complex. Somat Cell Mol Genet, 1999; 25(3): 177-183 [Abstract]
  13. Swank RT, Novak EK, McGarry MP, Zhang Y, Li W, Zhang Q, Feng L. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak Syndrome (review). Pigment Cell Res, 2000; 13: 59-67 [Abstract]
  14. Li W, Detter JC, Weiss HJ, Cramer EM, Zhang Q, Novak EK, Kingsmore SF, Swank RT. 5'UTR structural organization, transcript expression and single nucleotide polymorphisms of human Rab Geranylgeranyl transferase alpha subunit (RABGGTA) gene. Mol Genet Metab, 2000; 71(4): 599-608 [Abstract]
  15. Detter JC, Zhang Q, Mules EH, Novak EK, Mishna VS, Li W, McMurtrie EB, Tchernev VT, Wallace MR, Seabra MC, Swank RT, Kingsmore SF. Rab geranylgeranyl transferase a mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc Natl Acad Sci U.S.A. 2000; 97(8): 4144-4149 [Abstract] [PDF]


  1. Li W, Hu ZH, Liang P (editors-in-chief). Introduction to Bioinformatics. Zhengzhou: Zhengzhou University Press. 2004, Chinese
  2. Li W, He YS (editors-in-chief). Genetic Counseling. Zhengzhou: Zhengzhou University Press. 2003, Chinese
  3. Li W, Li W, Huang YY, Pang W, (editors-in-chief). Prenatal Genetic Diagnosis. Guangzhou: Guangdong Science & Technology Press. 2002, Chinese

ABSTRACTS (selected from international meetings)

  1. Li W, Liang P, Swank RT. Gene-oriented file system: the development of a Hermansky-Pudlak syndrome database (#2410). Abstract of the 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, 2004 [poster]
  2. Li W, Zhang Q, Oiso N, Novak EK, Gautum R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Boe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra VS, Kingsmore SF, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutations of dysbindin, a new member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Am J Hum Genet, 73(5): 219 Suppl, 2003 [oral]
  3. Zhang Q, Li W, Novak EK, Chen H, He Y, Roe BC, Copeland NG, Jenkins NA, Swank RT. Identification of the mouse ruby-eye-2(ru2) gene, a candidate gene for human Hermansky-Pudlak Syndrome. Abstract of HUGO's 7th International Human Genome Meeting, Shanghai, China, 2002 [poster]
  4. Spritz R, Suzuki T, Novak E, Zhang Q, Li W, et al. Identification of the mouse cocoa (coa) gene, a candidate gene for human Hermansky-Pudlak syndrome (HPS). Am J Hum Genet, 69(4): 146 Suppl. 2001 [poster]
  5. Suzuki T, Novak E, Zhang Q, Li W, et al. The human homolog of mouse light ear (le) is a major gene for Hermansky-Pudlak sydrome (HPS). Am J Hum Genet, 69 (4): 212 Suppl. 2001 [oral]
  6. Zhang Q, Li W, Novak EK, Karim A, Mishra V, Kingsmore S, Roe BA, Swank RT. The gene for the muted (mu) mouse, a model for Hermansky-pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Abstract of 15th International Mouse Genome Conference, Edinburgh, Scotland, 2001 [oral]
  7. Li W, Detter JC, Weiss HJ, et al. Structural organization, transcript expression and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene. Am J Hum Genet, 67(4): 2160 Suppl. 2000 [poster]
  8. Lin J, Liao S, Han J, Wang C, Zhou M, Wu C, Huang W, Kang C, Li W. Correlation between neonatal hepatitis B and maternal serum hepatitis B virus DNA copies (#2021). Pediatric Academic Society & American Academy of Pediatrics Joint Meeting Year 2000 Abstracts, Boston, USA, 2000 [poster]
  9. Li W, Mishna VS, Zhang Y, Zhang Q, Novak EK, Jenkins NA, Copeland NG, Kingsmore SF, Swank RT. High-resolution mapping and transcript identification at the sdy locus on mouse chromosome 13 (#F40). Abstract of the 13th International Mouse Genome Meeting, Philadelphia, USA, 1999 [poster]

[Before 1999]

Publications in Chinese