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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)
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