李巍

1994.09-1997.07：中山醫科大學醫學遺傳學專業，獲博士學位

1999.01-2004.11：美國紐約RoswellPark腫瘤研究所博士後

2003.01-2004.09：美國紐約州立大學Buffalo分校生物信息學專業，獲碩士學位 ^[1] 

2004.11-2015.04：中國科學院遺傳與發育生物學研究所研究員、博導

2015.05-迄今：首都醫科大學附屬北京兒童醫院教授、博導 ^[1] 

遺傳病診斷、產前診斷、遺傳諮詢；囊泡運輸、細胞器發生與動態。 ^[2] 

中國細胞生物學會常務理事、細胞器生物學分會副會長、繼續教育工作委員會副主任

中國生物物理學會理事、膜生物學分會副理事長

中國遺傳學會理事、科普教育專業委員會副主任

中華醫學會醫學遺傳學分會委員、指南與規範學組組長

中國醫師學會醫學遺傳醫師分會分子、細胞遺傳學組委員

中國醫促會出生缺陷精準醫學分會副主任委員兼秘書長

北京細胞生物學會理事長

北京醫學會遺傳學分會常委

北京婦幼保健與優生優育學會理事

分子發育生物學國家重點實驗室學術委員會委員 ^[2] 

BioscienceReports副主編

Frontiers in Cell & Developmental Biology, Membrane Ttrafficking Section副主編 ^[2] 

《醫學遺傳學（第3版）》副主編（2014）

《生物信息學導論》主編（2004）

《遺傳諮詢》主編（2003）

《產前遺傳病診斷》副主編（2002） ^[2] 

中科院百人計劃（2005）

國家傑出青年基金獲得者（2005）

新世紀百千萬人才工程國家級人選（2009）

北京市科學技術獎三等獎（排名第一，2018） ^[1] 

自1985年起先後從事醫學生物化學、醫學遺傳、產前診斷以及遺傳諮詢的教學、科研、臨牀工作。主要致力於白化病、高脂血症等遺傳代謝病基因的克隆和功能研究。2018年以第一完成人獲得北京市科學技術獎三等獎“白化病的基因診斷及發病機制研究”。

目前主要研究因囊泡運輸障礙導致的遺傳代謝疾病、心血管疾病及神經精神疾病等的發病機制。

已在國內外雜誌共發表論文140餘篇，其中被SCI收錄論文84篇。獲得國家發明專利2項，軟件著作權3項。 ^[1] 

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, 2020; doi: 10.1111/pcmr.12916.

Li XR#, Hao ZH#, Liu XR*, Li W*. Deficiency of mouse FHR-1 homolog, FHR-E, enhances alternative complement activity to induce sepsis and acute kidney injury stimulated by LPS. Front Immunol, 2020; 11: 1123.

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.

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.

Xu WJ, Leng F, Liu XS, Li W*. Blood-based multi-tissue gene expression inference with Bayesian ridge regression. Bioinformatics, 2020; pii: btaa239.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Liu XS, Li W*. Mining and characterization of preterm birth related genes. Heraditas (Beijing), 2019; 41(5): 413-421. Chinese.

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.

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.

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.

Chen YY, Hao ZH, Li W*. Molecular and cellular mechanism of vesicle trafficking. Chinese J Cell Biol, 2019; 41(1): 3-12. Chinese.

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.

Chen Y, Yuan Y, Li W*. Sorting machineries: how do platelet dense granules differ from α-granules. Biosci Rep, 2018; 38(5): BSR20180458.

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.

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.

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.

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.

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.

Guo R, Li W*. Exome sequencing identifies a case with Cornelia de Lange. Chinese J Birth Health Hered, 2018; 26(1): 26-28. Chinese.

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.

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.

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.

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. ^[1] 

主編《漫畫遺傳》科普專著，主持網站的科普和公益性在線遺傳諮詢。 ^[2]