北京儿童医院

出生缺陷遗传学研究室
2021-09-30 14:33:50
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Hao C#*, Guo R#, Liu J#, Hu X, Guo J, Yao Y, Zhao Z, Qi Z, Yin J, Chen L, Wang H, Xu B*, Li W*. Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study. Hum Mutat. 2021 Jul;42(7):891-900.

Hao C#*, Guo R#, Hu X#, Qi Z, Guo Q, Liu X, Liu Y, Sun Y, Zhang X, Jin F, Wu X, Cai R, Zeng D, Hu X, Wang X, Ji X, Li W, Xing Q, Mu L, Jiang X, Yang X, Yang W, Zhang Y, Yin Q, Ni X*, Li W*. Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China. J Genet Genomics. 2021 Aug 30:S1673-8527(21)00280-0.

Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, Guo R, Li W*, Hao C*. Whole exome sequencing for non-selective pediatric patients with hyperlipidemia. Gene. 2021 Feb 5;768:145310.

Yuan Y, Liu T, Huang X, Chen Y, Zhang W, Li T, Yang L, Chen Q, Wang Y, Wei A, Li W*. A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. Blood. 2021 Apr 1;137(13):1804-1817.

Liu T#, Yuan Y#, Bai D, Qi Z, Yang L, Zhang T, Yang X, Li W*, Wei A*. Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients. Pigment Cell Melanoma Res. 2021 Jan;34(1):111-121.

Liu T#, Yuan Y#, Bai D, Yao X, Zhang T, Huang Q, Qi Z, Yang L, Yang X, Li W*, Wei A*. The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population. J Dermatol. 2021 May;48(5):676-680.

Li H#, Guo J#, Jia Y, Kong W, Li W*. LOXL4 Abrogation Does Not Exaggerate Angiotensin II-Induced Thoracic or Abdominal Aortic Aneurysm in Mice. Genes (Basel). 2021 Mar 31;12(4):513.

贾丽娟#, 陈元颖#, 郝婵娟, 郭若兰, 刘艳, 李巍, 郭俊*, 冯迎军*. 二例限制型心肌病患儿TNNI3基因变异分析 [J]. 中华医学遗传学杂志, 2021, 38(8) : 731-734. 3.

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 Oct 21;18:2945-2952.

Xu W, Liu X, Leng F, Li W*. Blood-based multi-tissue gene expression inference with Bayesian ridge regression. Bioinformatics. 2020 Jun 1;36(12):3788-3794.

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 Dec 4;13(1):181.

Hu X, Guo R, Guo J, Qi Z, Li W, Hao C*. Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders. Front Genet. 2020 Jun 11;11:473. doi: 10.3389/fgene.2020.00473. PMID: 32595695; PMCID: PMC7300249.

Xu F, Qi H, Li J, Sun L, Gong J, Chen Y, Shen A, Li W*. Mycobacterium tuberculosis infection up-regulates MFN2 expression to promote NLRP3 inflammasome formation. J Biol Chem. 2020 Dec 18;295(51):17684-17697.

Qiu W, Wang B, Gao Y, Tian Y, Tian M, Chen Y, Xu L, Yao TP, Li P, Yang P*. Targeting Histone Deacetylase 6 Reprograms Interleukin-17-Producing Helper T Cell Pathogenicity and Facilitates Immunotherapies for Hepatocellular Carcinoma. Hepatology. 2020 Jun;71(6):1967-1987.

Sun Q*, Guo J*, Hao C, Guo R, Hu X, 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 Mar 17;4(1):11-16.

Zhao H, Yang Y, Pan X, Li W, Sun L*, 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 Jul;506:160-165.

Fang B#, Guo J#, Hao C, Guo R, Qian S, Li W*, Jia X*. Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. Clin Chim Acta. 2020 Feb;501:131-135. doi: 10.1016/j.cca.2019.10.030. Epub 2019 Oct 31. PMID: 31678577.

Sun Q#, Guo J#, Hao C, Guo R, Hu X, 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 Mar 17;4(1):11-16. doi: 10.1002/ped4.12183. PMID: 32851336; PMCID: PMC7331393.

Yu J, He X, Wei A, Liu T, Zhang Q, Pan Y, Hao Z, Yang L, Yuan Y, Zhang Z, Zhang C, Hao C, Liu Z, Li W. HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells. Front Immunol. 2020 Nov 5;11:560110.

Li X#, Hao Z#, Liu X*, 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 Jun 19;11:1123.

Liu XS, Li W*. [Mining and characterization of preterm birth related genes]. Yi Chuan. 2019 May 20;41(5):413-421. Chinese.

徐文剑, 李巍. 基于全血基因表达谱的脑组织基因表达量预测模型的建立[J]. 首都医科大学学报, 2019;40(5):731-737.

Li Q#, Guo R#, Gao L, Cui L, Zhao Z, Yu X, Yuan Y*, Xu X*. CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia. Mol Genet Genomic Med. 2019 Nov;7(11):e949.

郭若兰, 李巍*. 采用全外显子组高通量测序诊断Cornelia de Lange综合征一例[J]. 中国优生与遗传杂志, 2018, 026(001):26-28

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-atherosclerotic lipids. Biosci Rep. 2019 Feb 19;39(2):BSR20182339.

Hu X#, Liu J#, 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 Dec 19;12:51.

胡旭昀, 郭若兰, 郭俊,. 一例Nicolaides-Baraitser综合征患儿SMARCA2基因的变异分析[J]. 中华医学遗传学杂志, 2019, 36(12):1187-1190

Liu J#, Hu XY#, 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 Nov 14;20(1):182.

Zhang P#, Hu X#, 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 Jun 25;3(2):86-90. 

Wei A#, Yuan Y#, Qi Z, Liu T, Bai D, Zhang Y, Yu J, Yang L, Yang X, Li W. Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res. 2019 May;32(3):373-380.

Guo J#, Li Z#, 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 and left ventricular noncompaction cardiomyopathy. Mol Genet Genomic Med. 2019 Aug;7(8):e828.

胡旭昀, 吴迪, 李孟婷,. 身材矮小合并短指()畸形3例家系的基因突变与表型分析并文献复习[J]. 首都医科大学学报, 2018, 039(006):937-944.

陈元颖, 郝振华, 李巍. 囊泡运输的分子机制 [J]. 中国细胞生物学学报, 2019, 41(1): 3-12.

Chen Y, Yuan Y, Li W*. Sorting machineries: how platelet-dense granules differ from α-granules. Biosci Rep. 2018 Sep 7;38(5):BSR20180458. 

陈元颖#, 张鹏飞#, 郭俊, 郭若兰, 李巍, 钱素云, 贾鑫磊*, 郝婵娟*.. 利用全外显子测序技术发现BTK基因新生突变[J]. 中国优生与遗传杂志, 2018, 026(012):7-10.

Qian H#, Chen Y#, Nian Z#, Su L, Yu H, Chen FJ, Zhang X, Xu W, Zhou L, Liu J, Yu J, Yu L, Gao Y, Zhang H, Zhang H, Zhao S, Yu L, Xiao RP, Bao Y, Hou S, Li P, Li J, Deng H, Jia W, Li P*. HDAC6-mediated acetylation of lipid droplet-binding protein CIDEC regulates fat-induced lipid storage. J Clin Invest. 2017 Apr 3;127(4):1353-1369.

Zhan Q, Ying S, Qian F, et al. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome[J]. 中国科学:生命科学, 2017, 60(7):739.

Hao ZH, Li W. Muted protein is involved in the targeting of CD63 to large dense-core vesicles of chromaffin cells. Yi Chuan. 2016 Aug;38(8):718-23.

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 Dec 20;43(12):686-693.


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