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Yong-Hui Jiang · SciRah

Researcher profile · Semantic Scholar

Yong-Hui Jiang

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Yong-Hui Jiang — researcher profile on SciRah

h-index: 58
Works: 150
Citations: 13K

Most-cited papers

Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years
Hao Zhou, X. Xu, Wei-Li Yan, Xiaobing Zou +23 more
2020Neuroscience Bulletin398 citations Open access
Semantic Scholar
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism
Xiaoming Wang, Alexandra L. Bey, Brittany Katz, Alexandra Badea +21 more
2016Nature Communications310 citations Open access
Semantic Scholar
Potassium channel dysfunction in human neuronal models of Angelman syndrome
A. Sun, Qiang Yuan, Masahiro Fukuda, Weonjin Yu +21 more
2019Science160 citations Open access
Semantic Scholar
CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors
Chun-Xue Liu, Chun-yang Li, Chun-Chun Hu, Yi Wang +4 more
2018Molecular Autism150 citations Open access
Semantic Scholar
SHANK3 deficiency impairs heat hyperalgesia and TRPV1 signaling in primary sensory neurons
Qingjian Han, Yong Ho Kim, Xiaoming Wang, Di Liu +8 more
2016Neuron146 citations Open access
Semantic Scholar
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Allyn McConkie Rosell, L. Pena, K. Schoch, R. Spillmann +6 more
2016Journal of Genetic Counseling122 citations Open access
Semantic Scholar
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome
Yuna Kim, Hyeong-Min Lee, Yan Xiong, N. Sciaky +6 more
2016Nature Medicine121 citations Open access
Semantic Scholar
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Hsiao-Tuan Chao, M. Davids, Elizabeth A. Burke, J. Pappas +176 more
2017American Journal of Human Genetics111 citations Open access
Semantic Scholar
DNA Methylation and Susceptibility to Autism Spectrum Disorder
Martine W. Tremblay, Yong-Hui Jiang
2019Annual Review of Medicine110 citations Open access
Semantic Scholar
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors
Alexandra L. Bey, Xiaoming Wang, Hai-Dun Yan, Namsoo Kim +11 more
2018Translational Psychiatry107 citations Open access
Semantic Scholar
Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development.
Wenhao Zhang, Weikun Xia, Qiu-Jun Wang, Aaron J. Towers +16 more
2016Molecules and Cells106 citations Open access
Semantic Scholar
Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H
S. Mulkey, B. Ben-Zeev, J. Nicolai, J. Carroll +15 more
2017Epilepsia100 citations Open access
Semantic Scholar
ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity
Rui Yang, Kathryn K. Walder-Christensen, Namsoo Kim, Danwei Wu +6 more
2019Proceedings of the National Academy of Sciences of the United States of America98 citations Open access
Semantic Scholar
Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates
Hui Zhao, Qi-Qi Wang, Ting Yan, Yu Zhang +8 more
2019Translational Psychiatry96 citations Open access
Semantic Scholar
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
M. Oláhová, W. Yoon, K. Thompson, S. Jangam +209 more
2018American Journal of Human Genetics91 citations Open access
Semantic Scholar
Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate
Hui Zhao, Zhu-Chi Tu, Huijuan Xu, Sen Yan +11 more
2017Cell Research87 citations Open access
Semantic Scholar
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
K. Machol, J. Rousseau, Sophie Ehresmann, T. Garcia +201 more
2019American Journal of Human Genetics86 citations Open access
Semantic Scholar
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons
Qiong Xu, Yuan-yuan Liu, Xiaoming Wang, Guo-He Tan +7 more
2018Molecular Autism81 citations Open access
Semantic Scholar
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
R. Spillmann, A. McConkie-Rosell, L. Pena, Yong-Hui Jiang +7 more
2017Orphanet Journal of Rare Diseases80 citations Open access
Semantic Scholar
A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative
V. Shashi, K. Schoch, R. Spillmann, H. Cope +8 more
2018Genetics in Medicine74 citations Open access
Semantic Scholar
Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.
A. Pappas, Alexandra L. Bey, Xiaoming Wang, Mark A. Rossi +13 more
2017JCI Insight64 citations Open access
Semantic Scholar
TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice
Sarah Moyon, Rebecca Frawley, D. Marechal, Dennis Huang +8 more
2021Nature Communications62 citations Open access
Semantic Scholar
Early correction of NMDAR function improves autistic-like social behaviors in adult Shank2−/− mice
Changuk Chung, Seungmin Ha, Hyojin Kang, Jiseok Lee +26 more
2018Biological Psychiatry62 citations Open access
Semantic Scholar
Epigenetics and Autism Spectrum Disorders - A Report of an Autism Case with Mutation in H1 Linker Histone HIST1H1e and Literature Review
Lara J. Duffney, P. Valdez, Martine W. Tremblay, Xinyu Cao +3 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics60 citations Open access
Semantic Scholar
CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms
Zhu-Chi Tu, Hui Zhao, Bang Li, Sen Yan +13 more
2018Human Molecular Genetics60 citations Open access
Semantic Scholar
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature.
E. Abdelnour, William B. Gallentine, M. McDonald, M. Sachdev +2 more
2018Seizure59 citations Open access
Semantic Scholar
Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing
Yi-Min Wang, Xiaonan Du, Rao Bin, Shan-Shan Yu +6 more
2017Scientific Reports58 citations Open access
Semantic Scholar
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing
Yi-Min Wang, Xiaonan Du, Rao Bin, Shan-Shan Yu +6 more
2017Scientific Reports58 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more
2016American Journal of Human Genetics58 citations Open access
Semantic Scholar
BAD-mediated neuronal apoptosis and neuroinflammation contribute to Alzheimer's disease pathology
Liansheng Zhang, Yun Qian, Jie Li, Xuan Zhou +10 more
2021iScience52 citations Open access
Semantic Scholar
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
R. Holt, R. Young, B. Crespo, F. Ceroni +30 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Epigenetic therapy of Prader–Willi syndrome
Yuna Kim, S. E. Wang, Yong-Hui Jiang
2019Translational Research: The Journal of Laboratory and Clinical Medicine48 citations Open access
Semantic Scholar
Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.
Jinyu Wu, P. Yu, Xin Jin, X. Xu +21 more
2018Journal of genetics and genomics = Yi chuan xue bao45 citations
Semantic Scholar
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly
Rui Yang, Kathryn K. Walder-Christensen, Samir Lalani, Hai-Dun Yan +6 more
2019Proceedings of the National Academy of Sciences of the United States of America44 citations Open access
Semantic Scholar
Brain-wide electrical dynamics encode individual appetitive social behavior
S. Mague, Austin Talbot, Cameron Blount, Kathryn K. Walder-Christensen +15 more
2022Neuron43 citations Open access
Semantic Scholar
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
L. Pena, Yong-Hui Jiang, K. Schoch, R. Spillmann +23 more
2017Genetics in Medicine43 citations Open access
Semantic Scholar
Modeling Autism in Non-Human Primates: Opportunities and Challenges
Hui Zhao, Yong-Hui Jiang, Yong Q. Zhang
2018Autism Research42 citations Open access
Semantic Scholar
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Akemi J. Tanaka, M. Cho, K. Retterer, Julie R. Jones +12 more
2016Cold Spring Harbor molecular case studies42 citations Open access
Semantic Scholar
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
K. Schoch, Q. Tan, N. Stong, Kristen Deak +5 more
2020Genetics in Medicine41 citations Open access
Semantic Scholar
Neural circuit pathology driven by Shank3 mutation disrupts social behaviors
Sunwhi Kim, Yong-Eun Kim, I. Song, Y. Ujihara +5 more
2021Cell Reports40 citations Open access
Semantic Scholar
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Q. Tan, H. Cope, R. Spillmann, N. Stong +14 more
2018Cold Spring Harbor molecular case studies37 citations Open access
Semantic Scholar
Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism
S. Tzanoulinou, Stefano Musardo, A. Contestabile, S. Bariselli +5 more
2021bioRxiv35 citations Open access
Semantic Scholar
5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder
Ying Cheng, Ziyi Li, S. Manupipatpong, Li Lin +6 more
2018Human Molecular Genetics35 citations Open access
Semantic Scholar
The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling.
Mariam Mansour, S. Haupt, Ai-Leen Chan, Nathan J. Godde +15 more
2016Cancer Research31 citations Open access
Semantic Scholar
Adult surgical experience with Loeys-Dietz syndrome.
Jason Williams, Jennifer M. Hanna, A. A. Shah, Nicholas D. Andersen +6 more
2015Annals of Thoracic Surgery29 citations
Semantic Scholar
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation
Alexandra L. Bey, M. Gorman, William B. Gallentine, T. Kohlenberg +3 more
2020Pediatrics27 citations Open access
Semantic Scholar
Characteristics of undiagnosed diseases network applicants: implications for referring providers
N. Walley, L. Pena, S. Hooper, H. Cope +13 more
2018BMC Health Services Research27 citations Open access
Semantic Scholar
CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate
Bang Li, Hui Zhao, Zhu-Chi Tu, Wei-Li Yang +23 more
2023Cell Discovery26 citations Open access
Semantic Scholar
Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders.
Aaron J. Towers, Martine W. Tremblay, L. Chung, Xinlei Li +13 more
2018JCI Insight23 citations Open access
Semantic Scholar
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model
L. Chung, Alexandra L. Bey, Aaron J. Towers, Xinyu Cao +2 more
2017Neurobiology of Disease23 citations Open access
Semantic Scholar

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