国家自然科学基金青年项目，候选致病基因RIC8B通过影响TSHR/Gαs信号通路导致先天性甲状腺功能减退的致病机制研究，项目编号82000745，24万，执行年限2021.1-2023.12

国家自然科学基金青年项目，候选致病基因RIC8B通过影响TSHR/Gαs信号通路导致先天性甲状腺功能减退的致病机制研究，项目编号82000745，24万，执行年限2021.1-2023.12

1.Newborn screening with targeted sequencing: a multicenterinvestigation and a pilot clinical study in China. Hao C*#, Guo R#, Hu X#, QiZ, Guo Q, Liu X, Liu Y, Sun Y, Zhang X, Jin F, Wu X, Cai R, Zeng D, Hu X, WangX, Ji X, Li W, Xing Q, Mu L, Jiang X, Yang X, Yang W, Zhang Y, Yin Q, Ni X*, LiW*. J Genet Genomics. 2022.49(1).13-19

2.Novel pathogenic variants in KIT gene in three Chinesepiebaldism patients. Wang C#, Zhang Y#, Hu X, Wang L, Xu Z*, Xing H*. Front Med.2022.9.1040747

3.Newborn Genetic Screening Revealed Increased Levels ofBiochemical Indicators in Carriers of Heterozygous Variants. Zhang W, Jin F,Guo R, Qi Z, Wang Y, Li X, Wu Y, Li W, Hu X*, Hao C*. Genet Test Mol Biomarkers.2022.26(12).573-581

4.Identification and functional analysis of novel SLC25A19variants causing thiamine metabolism dysfunction syndrome 4. Chen Y#, Fang B#,Hu X, Guo R, Guo J, Fang K, Ni J, Li W, Qian S*, Hao C*. Orphanet J Rare Dis. 2021.16(1).403

5.Clinical Application of Whole Exome Sequencing forMonogenic Disorders in PICU of China. Liu Y#, Hao C#, Li K, Hu X, Gao H, ZengJ, Guo R, Liu J, Guo J, Li Z, Qi Z, Jia X, Li W*, Qian S*. Front Genet. 2021.12.677699.

6.Exome sequencing as the first-tier test for pediatricrespiratory diseases: A single-center study. 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* .Hum Mutat. 2021.42(7).891-900

7.Whole exome sequencing for non-selective pediatricpatients with hyperlipidemia. Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, GuoR, Li W, Hao C*. Gene. 2021.768.145310.

8.The first familial NSD2 cases with a novel variant in aChinese father and daughter with atypical WHS facial features and a 7.5-yearfollow-up of growth hormone therapy. Hu X#, Wu D#, Li Y#, Wei L, Li X, Qin M,Li H, Li M, Chen S, Gong C*, Shen Y*. BMC Med Genomics. 2020.13(1).81.

9.Parallel Tests of Whole Exome Sequencing and Copy NumberVariant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders. HuX, Guo R, Guo J, Qi Z, Li W, Hao C*. Front Genet. 2020.11.473.

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10.The first two Chinese Myhre syndrome patients with therecurrent SMAD4 pathogenic variants: Functional consequences and clinicaldiversity. Li H#, Cheng B#, Hu X, Li C, Su J, Zhang S, Li L, Li M, Yang K, HeS, Chen S, Wang H*, Liu G*, Shen Y*. Clin Chim Acta. 2020.500.128-134.

11.A novel 14q13.1-21.1 deletion identified by CNV-Seq in apatient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. HuX#, Liu J#, Guo R, Guo J, Zhao Z, Li W, Xu B*, Hao C*. Mol Cytogenet. 2019. 12.51.

12.Compound heterozygous LPIN2 pathogenic variants in apatient with Majeed syndrome with recurrent fever and severe neutropenia: casereport. Liu J#, Hu XY#, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ*, Xu BP*. BMC MedGenet. 2019.20(1).182

13.RGS1 silencing inhibits the inflammatory response andangiogenesis in rheumatoid arthritis rats through the inactivation of Toll-likereceptor signaling pathway. Hu X, Tang J, Zeng G, Hu X, Bao P*, Wu J, Liang Y,Deng W, Tang Y*. J Cell Physiol. 2019.234(11).20432-20442

14.A de novo variant in MMP13 identified in a patient withdominant metaphyseal anadysplasia. Song C, Li N, Hu X, Shi Y, Chen L, Zhou T,Xu X, Shen J*, Zhu M*. Eur J Med Genet. 2019.62(11).103575

15.一例Nicolaides-Baraitser综合征患儿SMARCA2基因的变异分析. 胡旭昀，郭若兰，郭俊，李巍，刘莉*，都婵娟*. 中华医学遗传学杂. 2019.36（12）.1187-1190.

16.以矮小为主诉的PORCN致病变异引起的局灶性真皮发育不良１例. 吴迪，胡旭昀，李晓侨，魏丽亚，苏畅，陈佳佳，秦淼，巩纯秀，沈亦平*. 中华实用儿科临床杂志. 2019.37（17）.1352-1354

17.身材矮小合并短指(趾) 畸形3例家系的基因突变与表型分析并文献复习. 胡旭昀，吴迪，李孟婷，陈佳佳，李晓侨，苏畅，陈少科，沈亦平，巩纯秀*. 首都医科大学学报. 2018.39（7）.937-944

18.Two Chinese Xia-Gibbs syndrome patients with partialgrowth hormone deficiency. Cheng X*, Tang F, Hu X, Li H, Li M, Fu Y, Yan L, LiZ, Gou P, Su N, Gong C, He W, Xiang R, Bu D, Shen Y*. Mol Genet Genomic Med. 2019.7(4).e00596.

19.Novel HMGCS2 pathogenic variants in a Chinese family withmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Zhang P#, HuX#, Guo R, Guo J, Li W, Qian S, Hao C*, Liu J*. Pediatr Investig. 2019.3(2).86-90.

20.A report on a girl of Noonan syndrome 9 presenting withbilateral lower limbs lymphedema. Ding Y, Hu XY, Song YN, Cao BY, Liang XJ, LiHD, Fan X, Chen SK, Shen YP, Gong CX*. Chin Med J (Engl). 2019.132(4).480-482

21.CYP24A1 Variants in Two Chinese Patients with IdiopathicInfantile Hypercalcemia. Sun Y, Shen J, Hu X, Qiao Y, Yang J, Shen Y, Li G*. FetalPediatr Pathol. 2019.38(1).44-56

22.Compound heterozygous variants of the COG6 gene in aChinese patient with deficiency of subunit 6 of the conserved oligomeric Golgicomplex (COG6-CDG). Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W*, WangJ*. Eur J Med Genet. 2019.62(1).44-46

23.Proband-only medical exome sequencing as a cost-effectivefirst-tier genetic diagnostic test for patients without prior molecular testsand clinical diagnosis in a developing country: the China experience. Hu X#, LiN#, Xu Y#, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, WangX, Wang J*, Shen Y*. Genet Med. 2018.20(9).1045-1053

24.Novel RNASET2 Pathogenic Variants in an East Asian Childwith Delayed Psychomotor Development. Sun Y#, Hu X#*, Song J, Hu Y, Liu C, LiG*. Fetal Pediatr Pathol. 2018.37(1).

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25.Prenatal and early diagnosis of Chinese 3-M syndromepatients with novel pathogenic variants. Hu X, Li H, Gui B, Xu Y, Wang J, Li N,Su J, Zhang S, Song Y, Wang Y, Luo J, Fan X, Wang J, Chen S, Gong C, Shen Y*. ClinChim Acta. 2017.474.159-164

26.Novel pathogenic ACAN variants in non-syndromic shortstature patients. Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G,Chen Y, Qing Y; Chinese Genetic Short Stature Consortium; Li C, Luo J, Fan X,Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y*. Clin Chim Acta. 2017. 469.126-129

27.Further defining the critical genes for the 4q21microdeletion disorder. Hu X, Chen X, Wu B, Soler IM, Chen S, Shen Y*. Am J MedGenet A. 2017.173(1).120-125

28.Thyroglobulin gene mutations in Chinese patients withcongenital hypothyroidism. Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, LiC, Luo J, Su J, Zhang S, Xie B, Zheng H, Lai Y, Chen Y, Li H, Gu X, Chen S,Shen Y*. Mol Cell Endocrinol. 2016.423.60-6