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郭辉
邮  箱: guohui@sklmg.edu.cn
职  称:
研究员
联系电话: 0731-84805340
传  真:
地  址: 湖南省长沙市湘雅路110号医学遗传学研究中心
个人简历

教育经历

2008.09 - 2013.12中南大学遗传学博士

2011.10 - 2012.10美国国立卫生研究院精神卫生研究所(NIMH)博士联合培养

2004.09 - 2008.06中南大学学士

工作经历

2020.10 –至今中南大学生命科学学院研究员

2017.02 - 2019.02华盛顿大学医学院基因组学系博士后

2015.10 – 2020.10中南大学生命科学学院副研究员

2014.06 - 2015.10中南大学生命科学学院助理研究员

研究方向

[1] 孤独症的遗传结构:利用新一代高通量测序技术鉴定孤独症及相关神经发育疾病相关的结构变异及序列水平的变异等,构建更好的遗传MODEL解释疾病的遗传结构;鉴定孤独症高风险致病基因及相应的临床亚型。

[2] 孤独症高风险致病基因参与神经发育和疾病发生的功能机制:综合利用细胞、果蝇和小鼠模型,研究与RNA代谢相关的孤独症高风险致病基因的基因组表达调控以及与神经发育和孤独症发生的关系;探索孤独症可能的干预和治疗策略。

[3] 基因组学在孤独症及相关神经发育疾病遗传诊断中的应用:搭建高质量的二代和三代全基因组测序和分析平台,构建孤独症及相关神经发育疾病基因组信息的解读系统和遗传咨询体系,开发孤独症等相关神经发育疾病的早期预警和早期诊断体系。

代表性论文

1. Guo H†*, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K*. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Am J Hum Genet. 2020 107(5):963-976. (通讯作者,IF = 10.5)

2. Wu H, Li H, Bai T, Han L, Ou J, Xun G, Zhang Y, Wang Y, Duan G, Zhao N, Chen B, Du X, Yao M, Zou X, Zhao J, Hu Z, Eichler EE,Guo H*, Xia K*. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort. Clin Genet. 2020 97(2):338-346. (通讯作者,IF = 3.6)

3. Guo H†*, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Hoekzema K, Wu H, Gillentine MA, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen M, Bai T, Long M, Liu C, Ni H, Han L, Quan Y, Chen M, Zhang Y, Zhao R, Li K, Zhang Q, Tan J, Zhu T, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Adams DJ, Kvarnung M,Lindstrand A,Nordgren A, Pevsner J,Adeshina IM, RomanoC, Calabrese G, Galesi O,Gecz J,Haan E,Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball SR, Zou X, Zhao J, Hu Z, XiaF, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, LiH, XieW,HufnagelRB*,Eichler EE*, Xia K*. Disruptive variants of CSDE1 associates with autism and interferes with neuronal development and synaptic transmission. Sci Adv. 2019 5(9):eaax2166. (通讯作者,IF = 13.1)

4. Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema1 K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Ijntema H, Long M, Zhao W, Hu Z, Colson C, Nicolas R, Schwartz C, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Jamra RA, Buttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss JM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Wangler MF, Yamamoto S, Bernier RA, Xia K, Stegmann APA, Bellen HJ, Murgia A*, Eichler EE*. Disruptive mutations inTANC2define a new neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun.201910(1):4679. (IF = 12.1)

5. Salpietro V, Dixon CL,Guo H, Bello OD, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Efthymiou S, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Manniko R, Manole A, Brusco A, Grosso E, Ferrero GB, Moron JA, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Willaert R, Cho MT, Vandrovcova J, Yoo Y, Chae J, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Schneider AL, Boysen A, Muir AM, Haeringen AV, Ruivenkamp C, Nava C, Heron D, Zara F, Minetti C, Skabar A, Fabretto A, DDD, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Costantino J, Zorzi RD, Fortuna S, Keren B, Bonneau D, Choi M, Benzeev B, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM*, Houlden H*.AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 201910(1):3094. (IF = 12.1, Q1)

6. Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE*. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med. 2019 21(7):1611-1620. (IF = 8.9)

7. Zhao W, Tan J, Zhu T, Ou J, Li Y, Shen L, Wu H, Han L, Liu Y, Jia X, Bai T, Li H, Ke X, Zhao J, Zou X, Hu Z,Guo H*, Xia K*. Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development. J Genet Genom. 2019 46:247-257. (通讯作者,IF = 5.1)

8. Guo H†*, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, Zhang Y, Baker C, Liu Y, Pang N, Huang L, Han L, Jia X, Liu C, Ni H, Yang X, Xia L, Chen J, Shen L, Li Y, Zhao R, Zhao W, Peng J, Pan Q, Long Z, Su W, Tan J, Du X, Ke X, Yao M, Hu Z, Zou X, Zhao J, Raphael A. Bernier RA, Eichler EE*, Xia K*. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggests a multifactorial model. Mol Autism. 2018 9:64. (通讯作者,IF = 5.9)

9. Wang T,Guo H, Xiong B, Stessman H, Wu H, Coe B, Turner T, Liu Y, Zhao W, Hoekzema K, Vives L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Xia L, Lin J, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K*, Eichler E*. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016. 7:13316.(IF = 12.1)

10. Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z*, Xia K*. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with non-syndromic high myopia. Genet Med. 2015 17(4): 300-306. (IF = 8.9)

11. Xia K†*,Guo H, Hu ZM, Xun GL, Zuo LJ, Peng Y, Wang K, He YQ, Xiong ZM, Sun LD, Pan Q, Long ZG, Zou XB, Li XP, Li W, Xu XJ, Lu LN, Liu YL, Hu YQ, Tian D, Long LW, Ou JJ, Liu Y, Li XR,Zhang LS, Pan YC, Chen JJ, Peng H, Liu Q, Luo XR, Su W, Wu LQ, Liang DS, Dai HP, Yan XX, Feng Y, Tang BS, Li JD, Miedzybrodzka Z, Xia JH, Zhang ZH, Luo XR, Zhang XJ, Clair D, Zhao JP*, and Zhang FY*. Common variants on 1p13.2 associate with risk of autism. Mol Psychiatry. 2014 19(11):1212-1219. (IF = 12.4)

12. Guo H, Jin XM, Zhu TF, Wang TY, Tong P, Tian L, Peng Y, Sun LD, Wan AR, Chen JJ, Liu YY, Li Y, Tian Q, Xia L, Zhang LS, Pan YC, Lu LN, Liu Q, Shen L, Li YP, Xiong W, Li JD, Tang BS, Feng Y, Zhang XJ, Zhang ZZ, Pan Q, Hu ZM*, Xia K*. SLC39A5 mutations interfering BMP/TGF-β pathway in nonsyndromic high myopia. J Med Genet. 2014 51:518-525. (IF = 4.9)

13. Guo H, Tong P, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z*, Xia K*. Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. Clin Genet. 2014 86(6):575-579. (IF = 3.6)