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Author Details

Yong-Hui Jiang
Yale University School of Medicine
1997
129
49
PMIDPaper TitleJournal TitlePublished Year
36845137SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis.Front Immunol2023
36878905CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate.Cell Discov2023
35294900Brain-wide electrical dynamics encode individual appetitive social behavior.Neuron2022
35738554Comparative Proteome and Cis-Regulatory Element Analysis Reveals Specific Molecular Pathways Conserved in Dog and Human Brains.Mol Cell Proteomics2022
35675770Neural circuit pathology driven by Shank3 mutation disrupts social behaviors.Cell Rep2022
35405010The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.Hum Mol Genet2022
36317458A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.Hum Mutat2022
35022531Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism.Mol Psychiatry2022
33388374Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.Prog Neurobiol2021
33845648Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis.Autism2021
34430820BAD-mediated neuronal apoptosis and neuroinflammation contribute to Alzheimer's disease pathology.iScience2021
34099715TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice.Nat Commun2021
34117073Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variant.Cold Spring Harb Mol Case Stud2021
33278787High genetic burden in 163 Chinese children with status epilepticus.Seizure2021
32366967Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.Genet Med2020
32015180Subacute Neuropsychiatric Syndrome in Girls With <i>SHANK3</i> Mutations Responds to Immunomodulation.Pediatrics2020
33254717The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans.Environ Pollut2020
32607739Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years.Neurosci Bull2020
32815320A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination.Autism Res2020
30466882Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2<sup>-/-</sup> Mice.Biol Psychiatry2019
31636273Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates.Transl Psychiatry2019
31857479Potassium channel dysfunction in human neuronal models of Angelman syndrome.Science2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
31353046Potential of Epigenetic Therapy for Prader-Willi Syndrome.Trends Pharmacol Sci2019
31402090De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.Am J Hum Genet2019
31285321<i>ANK2</i> autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity.Proc Natl Acad Sci U S A2019
31451636Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly.Proc Natl Acad Sci U S A2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
31072785Corrigendum to "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature" [Seizure 55 (February) (2018) 1-3].Seizure2019
30722085[The history and current status of medical genetics and genomics system in the United States].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2019
30904443Epigenetic therapy of Prader-Willi syndrome.Transl Res2019
31160311Retraction: The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling.Cancer Res2019
30691368DNA Methylation and Susceptibility to Autism Spectrum Disorder.Annu Rev Med2019
30329048CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms.Hum Mol Genet2019
30580808Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.Am J Hum Genet2019
28914269Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Genet Med2018
30134969Characteristics of undiagnosed diseases network applicants: implications for referring providers.BMC Health Serv Res2018
29973306Evaluating Web-based Educational Modules on Genetic Testing for Autism among Parents of Children with Autism.Am J Health Behav2018
29970384Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.Cold Spring Harb Mol Case Stud2018
30013502Cross-Cultural Revision and Psychometric Properties of the Chinese Version of the Autism Spectrum Rating Scale (2-5 Years).Front Neurol2018
30352594Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.BMC Med Genomics2018
30574290Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons.Mol Autism2018
30317697Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder.Brain Behav2018
30518695Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders.JCI Insight2018
30392784Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.J Genet Genomics2018
29700290Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors.Transl Psychiatry2018
29573234Modeling autism in non-human primates: Opportunities and challenges.Autism Res2018
297909565-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder.Hum Mol Genet2018
29651456Systematic reconstruction of autism biology from massive genetic mutation profiles.Sci Adv2018
29704315Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.Am J Med Genet B Neuropsychiatr Genet2018
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Megan T Cho
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Anna C Need
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Edwin J Weeber
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Release 1.2