Journal Publications

• [1]Jia X, Zhang S, Tan S, et al. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Sci Adv, 2022, 8 (33) : eabo7112.
• [2]Chen G, Yu B, Tan S, et al. GIGYF1 disruption associates with autism and impaired IGF-1R signaling.J Clin Invest, 2022, 132 (19) : e159806.
• [3]Wilfert AB, Turner TN, Murali SC, et al. Recent ultra-rare inherited mutations implicate novel autism candidate risk genes.Nat Genet, 2021, 53 (8) : 1125-1134.
• [4]Guo H, Zhang Q, Dai R, et al. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.Am J Hum Genet, 2020, 107 (5) : 963.
• [5]Wang T, Hoekzema K, Vecchio D, et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Nature Communication, 2020, 11 (1) : 4932.
• [6]Guo H, Li Y, Shen L, et al. Disruptive mutations of CSDE1 associates with autism and interferes with neuronal development and synaptic transmission.Science Advances, 2019, 5 (9) : eaax2166.
• [7]Salpietro V, Dixon CL, Guo H, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.Nat Commun, 2019, 10 (1) : 3094.
• [8]Guo H, Duyzend MH, Coe BP, et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.Genet Med, 2019, 21 (7) : 1611-1620.
• [9]Guo H, Bettella E, Marcogliese PC, et al. Disruptive mutations in TANC2 define a new neurodevelopmental syndrome associated with psychiatric disorders.Nat Commun, 2019, 10 (1) : 4679.
• [10]Guo H, Wang T, Wu H, et al. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggests a multifactorial model.Mol Autism, 2018, 9: 64.
• [11]Geisheker M, Heymann G, Wang T, et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Nat Neurosci, 2017, 20 (8) : 1043-1051.
• [12]Wang T, Guo H, Xiong B, et al. De novo genic mutations among a Chinese autism spectrum disorder cohort.Nat Commun, 2016, 7: 13316.
• [13]Guo H, Tong P, Liu Y, et al. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with non-syndromic high myopia.Genet Med, 2015, 17 (4) : 300-306.
• [14]Guo H, Tong P, Peng Y, et al. 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.
• [15]Xia K, Guo H, Hu Z, et al. Common variants on 1p13.2 associate with risk of autism.Mol Psychiatry, 2014, 19 (11) : 1212-1219.
• [16]Guo H, Jin X, Zhu T, et al. SLC39A5 mutations interfering BMP/TGF-β pathway in nonsyndromic high myopia.J Med Genet, 2014, 51 (8) : 518-525.