Select Publications

1. Wang X, McCoy P, Rodriguiz RM, Pan Y, Je HS, Roberts A, Kim C, Berrios J, Colvin JS, Moore D, Lorenzo I, Wu G, Weinberg RJ, Ehlers MD, Philpot BD, Beaudet AL, Wetsel WC, Jiang Y-H.(2011). Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet. 20(15):3093-108. PMCID:3131048 (Faculty 1000). PubMed
2. Jiang Y-H* and Ehlers, MD. Modeling autism SHANK3 mutations in mice (2013). Neuron. 10;78(1):8-27. PMCID: 3659167 PubMed
3. Wang, X.B., A, Katz, KM. Badea, A. Kim, N. David, L. Duffney, L. Kumar, S, Stephen D. Mague, Samuel W. Hulbert, Dutta, N. Rodriguiz, RM Fan Wang, Weinberg, R. Wetsel, W. Dzirasa, K. Yin , H. Jiang, Y-H (2016). Altered mGluR5-Homer Scaffolds and Neural Connectivity in a Shank3 Complete Knockout Model of Autism. Nature Communication.7:11459. doi: 10.1038/ncomms11459 PMID: 27161151. PMCID:4866051 (Faculty 1000 prime) PubMed
4. Duffney LD, Valdez P, Tremblay MW, Cao X, Montgomery S, McConkie-Rosell A, Jiang YH. Epigenetics and Autism Spectrum Disorders - A Report of an Autism Case with Mutation in H1 Linker Histone HIST1H1e and Literature Review. American Journal of Medical Genetics 2018, 177(4):426-433. PubMed
5. Tu, Z., H. Zhao, B. Li, S. Yan, L. Wang, Y. Tang, Z. Li, D. Bai, C. Li, Y. Lin, Y. Li, J. Liu, H. Xu, X. Guo, Jiang, YH*(co-corresponding). Zhang, YQ and Li, XJ. CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms. Human Molecular Genetics2019, 28(4):561-571 PubMed
6. Sun AX, Yuan Q, Fukuda M, Yu W, Yan H, Lim GGY, Nai MH, D'Agostino GA, Tran HD, Itahana Y, Wang D, Lokman H, Itahana K, Lim SWL, Tang J, Chang YY, Zhang M, Cook SA, Rackham OJL, Lim CT, Tan EK, Ng HH, Lim KL, Jiang YH, Je HS. Potassium channel dysfunction in human neuronal models of Angelman syndrome. Science. 2019 Dec 20;366(6472):1486-1492. doi: 10.1126/science. aav5386. PMID: 31857479 PubMed
7. Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K. Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. Pediatrics. 2020 Feb;145(2):e20191490. doi: 10.1542/peds.2019-1490. PMID: 32015180 PubMed
8. Hulbert SW, Wang X, Gbadegesin SO, Xu Q, Xu X, Jiang YH. A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination. Autism Research 2020 Aug 19. doi: 10.1002/aur.2353. Online ahead of print. PubMed

1. Jiang Y-H, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL (2004). A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet. 131A(1):1-10. PMID 15389703. PubMed
2. Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH. Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. (2014). Hum Mol. Genet. 23(6):1563-78. PMID:24186872. PMICD 3929093. PubMed
3. Towers AJ, Tremblay MW, Chung L, Li XL, Bey AL, Zhang W, Cao X, Wang X, Wang P, Duffney LJ, Siecinski SK, Xu S, Kim Y, Kong X, Gregory S, Xie W, Jiang YH. Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders. JCI Insight. 2018 Dec 6;3(23). pii: 120592. doi: 10.1172/jci.insight.120592. PubMed
4. Tremblay, M & Jiang, YH. DNA Methylation and Susceptibility in Autism Spectrum Disorder: Annual Review of Medicine. 2019, 70:151-166. PubmMed

1. Jiang Y-H, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet, AL. (1998). Mutation of the Angelman ubiquitin protein ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811 PMID.9808466. PubMed
2. Jiang Y-H*(corresponding author), Pan YZ, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, & Beaudet AL(2010). Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One. 20;5(8).e12278. PMCID.2924885. PubMed
3. Kim Y, Lee, HM, Xiong Y, Sciaky N, Hulbert, S, Cao X, Everitt J, Jin Roth BL, & Jiang YH (2016). Targeting the histone methyltransferase G9a improves the survival and growth of a mouse model of Prader-Willi syndrome. Nature Medicine. 10.1038/nm. 4257. [Epub ahead of print]: PMID:28024084.(Duke Health News and NICHD News). PubMed
4. Wang S and Jiang YH. Epigenetic Therapy and Prader-Willi Syndrome: The promise and challenge. Trend in Pharmacological Science 2019, pii: S1931-5244(19)30048-9. PubMed
   

1. Bi C, Jin, Y, T ao X, Yang H, J. Wang, Jiang Y-H#, Sun ZS (#co-corresponding author). ANK3 mutation is associated with autism spectrum disorder susceptibility. Human Mutation. 2012. 33(12):1635-8. PubMed
2. Jiang, Y-H, Yuan, R, Xin, J, Yang H, Shih, A, Dawson, G, Steve Scherer. Detection of Clinical relevant variants in autism spectrum disorders by whole genome sequencing. Am J. Hum. Gent. 8;93(2):249-63. (No. 1 of top 10 autism research in 2013 by Autism Speaks). PMCID: 3738824. PubMed
3. Xu Q, Goldstein J, Ping Wang, Labreche H, McConkie A, Xu X, Jiang, Y-H (2016). Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge. Pediatric Research.80(3):371-81. doi: 10.1038/pr. 2016.101. PMID: 27119313. PMC5382808. PubMed
4. Wu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH(co-correspondence), Sun ZS. (2018) Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing. J Genet Genomics. 2018 Oct 20;45(10):527-538. doi: 10.1016/j.jgg.2018.09.002. PubMed

I am a clinical and biochemical geneticist for clinical expertise. I evaluate children with intellectual disability, developmental delay, and epilepsy using genetic methods including WGS/WES. Together with Dr. Shashi and Goldstein, we started a genome sequencing clinic for pediatric undiagnosed diseases at Duke Children’s Hospital. In 2014, we join NIH U01 Undiagnosed Disease Net Work. We are one of a few leading programs of using the genome sequencing technique in clinical application.

1. Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios (2015). Genet Med.17(10):774-81. doi: 10.1038/ gim.2014.191. PMID:25590979. PMIC:4791490. PubMed
2. Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network., Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Jiang, YH. Need AC, Goldstein DB, Kortüm (2016). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg. 2016.08.017: PMID: 27693232. PMIC5065681. PubMed
3. Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Undiagnosed Diseases Network. Genet Med. 2018 Jun 15. doi: 10.1038/s41436-018-0044-2. [Epub ahead of print]. PubMed
4. Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT; Undiagnosed Diseases Network, Goldstein DB, Jiang YH, Shashi V. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 Jul;22(7):1269-1275. doi: 10.1038/s41436-020-0781-x. Epub 2020 May 5. PMID: 32366967. PubMed