Yong-hui Jiang

发表

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

S. Scherer, C. Lajonchere, D. Merico, 2013, American journal of human genetics.

5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder

P. Jin, Hao Wu, Q. Shu, 2018, Human molecular genetics.

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

J. Bressler, L. Shaffer, A. Beaudet, 2004, American journal of medical genetics. Part A.

Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Yi Wang, Yong-hui Jiang, Yong-Hui Jiang, 2017, Scientific Reports.

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Yong-hui Jiang, Yimin Wang, Xiaonan Du, 2017, Scientific Reports.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Yujun Han, Doron Lancet, Elon Pras, 2015, Genetics in Medicine.

Loss of miR-23b/27b/24-1 Cluster Impairs Glucose Tolerance via Glycolysis Pathway in Mice

Yong-hui Jiang, Yuanyuan Man, Yue Liu, 2021, International journal of molecular sciences.

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Julie R. Jones, Allyn McConkie-Rosell, Wendy K. Chung, 2016, Cold Spring Harbor molecular case studies.

Potassium channel dysfunction in human neuronal models of Angelman syndrome

C. Lim, H. Ng, S. Cook, 2019, Science.

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis

Q. K. Tan, Carolyn E. Pizoli, J. Juusola, 2017, Cold Spring Harbor molecular case studies.

Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review

Yong-hui Jiang, A. McConkie-Rosell, Lara J. Duffney, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Epigenetic therapy of Prader-Willi syndrome.

Yong-hui Jiang, Yuna Kim, S. E. Wang, 2019, Translational research : the journal of laboratory and clinical medicine.

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H

Rebecca C. Spillmann, I. Scheffer, M. Cilio, 2017, Epilepsia.

Potential of Epigenetic Therapy for Prader-Willi Syndrome.

Yong-hui Jiang, S. E. Wang, 2019, Trends in pharmacological sciences.

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

M. Avantaggiati, M. McDonald, M. Paige, 2015, JIMD reports.

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity

W. Wetsel, H. Yin, A. Badea, 2019, Proceedings of the National Academy of Sciences.

A giant ankyrin-B mechanism for neuro-diversity/divergence through stochastic ectopic axon projections

W. Wetsel, H. Yin, A. Badea, 2018 .

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

R. Weinberg, R. Rodriguiz, W. Wetsel, 2016, Nature Communications.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Neural circuit pathology driven by Shank3 mutation disrupts social behaviors

H. Yin, Taeho Lee, Yong-hui Jiang, 2021, Cell reports.

Adult surgical experience with Loeys-Dietz syndrome.

S. B. Wechsler, A. Zomorodi, M. McDonald, 2015, The Annals of thoracic surgery.

Common Congenital Anomalies

Yong-hui Jiang, M. S. Latuga, M. McDonald, 2020, Neonatology.

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

Rebecca C. Spillmann, S. Hooper, V. Shashi, 2019, Clinical genetics.

DNA Methylation and Susceptibility to Autism Spectrum Disorder.

Yong-hui Jiang, Martine W Tremblay, 2019, Annual review of medicine.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Early correction of NMDAR function improves autistic-like social behaviors in adult Shank2−/− mice

Seungjoon, Yeonseung Chung, B. Kaang, 2019 .

E6ap Ubiquitin Ligase Regulates Pml-induced Senescence in Myc-driven Lymphomagenesis Neoplastic Transformation Requires the Elimination of Key Tumor Suppressors, Which May Result from E3 Ligase-mediated Proteasomal Degradation. We Previously Demonstrated a Key Role for the E3 Ubiqui- Tin Ligase E6ap

P. Pandolfi, S. Fox, S. Lowe, 2022 .

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Novel clinical manifestations in patients with KCNA2 mutations

T. Loddenkemper, D. Tchapyjnikov, M. Gaínza-Lein, 2017, Seizure.

Mutations of the Histone Linker H1-4: An Expanded Cohort and Functional Characterization of Frameshift Mutant H1.4 in Neurons

J. Rosenfeld, W. Craigen, A. West, 2020 .

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation

E. Weeber, M. Hojjati, Y. Elgersma, 2007, Nature Neuroscience.

Pseudometabolic presentation of dystrophinopathy due to a missense mutation

V. Shashi, K. Schoch, Yong-hui Jiang, 2010, Muscle & nerve.

approach is highly effective in diagnosing individuals who are negative.

Rebecca C. Spillmann, Q. K. Tan, A. Need, 2019 .

Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model

Yong-hui Jiang, Aaron J. Towers, Alexandra L. Bey, 2018, Neurobiology of Disease.

c-Abl phosphorylates E6AP and regulates its E3 ubiquitin ligase activity.

O. Schueler‐Furman, M. Scheffner, P. Pilling, 2013, Biochemistry.

Comparative Proteome and Cis-Regulatory Element Analysis Reveals Specific Molecular Pathways Conserved in Dog and Human Brains

Guo-Dong Wang, Xiahe Huang, Yingchun Wang, 2022, Molecular & cellular proteomics : MCP.

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Ping Fang, Johanna M. Rommens, James S. Sutcliffe, 1997, Nature Genetics.

Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells

J. Bressler, A. Beaudet, Yong-hui Jiang, 2003, Genesis.

Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

Gregor Eichele, G. Eichele, A. Beaudet, 1998, Neuron.

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

M. Friez, M. McDonald, M. May, 2021, Cold Spring Harbor molecular case studies.

Human disorders of ubiquitination and proteasomal degradation.

A. Beaudet, Yong-hui Jiang, 2004, Current opinion in pediatrics.

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation

J. Frankovich, Yong-hui Jiang, M. Gorman, 2020, Pediatrics.

Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl

L. Biesecker, J. Johnston, Yong-hui Jiang, 2009, American journal of medical genetics. Part A.

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

J. Rosenfeld, K. Schoch, J. Phillips, 2022, Human mutation.

Brain-wide electrical dynamics encode an appetitive socioemotional state

David Edwin Carlson, K. Dzirasa, Neil Gallagher, 2020, bioRxiv.

Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate

Yong-hui Jiang, Yinghui Zheng, Huanhuan Yan, 2017, Cell Research.

Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates

Xiao-Jiang Li, Yong-hui Jiang, Ting Yan, 2019, Translational Psychiatry.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice

W. Möbius, L. Kegel, P. Casaccia, 2021, Nature Communications.

TET1-mediated DNA hydroxy-methylation regulates adult remyelination

W. Möbius, L. Kegel, P. Casaccia, 2019, bioRxiv.

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Dipendra K. Aryal, D. Goldstein, J. McNamara, 2013, Neuron.

Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling

Xiu Xu, Dongyun Li, Yong-hui Jiang, 2020, Progress in Neurobiology.

Mouse Behavioral Models for Autism Spectrum Disorders

W. Wetsel, S. Moy, Yong-hui Jiang, 2013 .

Epigenetics and human disease.

Jan Bressler, J. Bressler, A. Beaudet, 2004, Annual review of genomics and human genetics.

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

Donald P. Frush, Carlos A. Bacino, Vandana Shashi, 2018, Cold Spring Harbor molecular case studies.

Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction

A. Beaudet, B. O’Malley, Z. Nawaz, 2002, Molecular and Cellular Biology.

A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination

Xiu Xu, Yong-hui Jiang, S. Hulbert, 2020, Autism research : official journal of the International Society for Autism Research.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons

Xiu Xu, Z. Xiong, Yong-hui Jiang, 2018, Molecular Autism.

Systematic reconstruction of autism biology from massive genetic mutation profiles

Chaolin Zhang, C. Brouwer, Yong-hui Jiang, 2018, Science Advances.

Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic

S. Cheung, Xiu Xu, Yong-hui Jiang, 2015 .

Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era

S. Cheung, K. Choy, Yi Wang, 2014, Critical reviews in clinical laboratory sciences.

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

Yoonji Lee, Yong-hui Jiang, Alexandra L. Bey, 2014, Molecular Autism.

Modeling Autism by SHANK Gene Mutations in Mice

M. Ehlers, Yong-hui Jiang, 2013, Neuron.

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility

Zhong Sheng Sun, Cheng Bi, Tao Cai, 2012, Human mutation.

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.

A. Beaudet, M. Ehlers, R. Weinberg, 2011, Human molecular genetics.

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.

Mingbang Wang, Xin Jin, Xiu Xu, 2018, Journal of genetics and genomics = Yi chuan xue bao.

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.

Yi-Ju Li, Hyuna Yang, Yong-hui Jiang, 2014, Human molecular genetics.

Epigenetic dysregulation of SHANK 3 in brain tissues from individuals with autism spectrum disorders

Yi-Ju Li, Hyuna Yang, Yong-hui Jiang, 2014 .

Overview of Mouse Models of Autism Spectrum Disorders

Yong-hui Jiang, Alexandra L. Bey, 2014, Current protocols in pharmacology.

CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms

Xiao-Jiang Li, Yong-hui Jiang, Hui Zhao, 2018, Human molecular genetics.

CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors

Xiu Xu, Yong-hui Jiang, Qiang Li, 2018, Molecular Autism.

Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development.

Chia-An Yen, Wei Xie, D. Leung, 2016, Molecular cell.

Therapeutic approaches for shankopathies

A. Krystal, Yong-hui Jiang, Alexandra L. Bey, 2014, Developmental neurobiology.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

J. Bressler, L. Shaffer, A. Beaudet, 2008, BMC Genomics.

Factors Influencing Decisions About Prenatal Genetic Testing for Autism Among Mothers of Children with Autism Spectrum Disorders

L. Mitchell, Lei Xu, Yong-hui Jiang, 2020 .

Parental Knowledge and Perceptions of Pediatric Genomic Testing for Autism Spectrum Disorders in Rural Settings

L. Mitchell, Lei Xu, Yong-hui Jiang, 2018, Advances in Neurodevelopmental Disorders.

Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge

Xiu Xu, C. Rehder, Heather Labreche, 2016, Pediatric Research.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Allyn McConkie-Rosell, Kelly Schoch, Vandana Shashi, 2013, Genetics in Medicine.

Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2 −/− Mice

Yeonseung Chung, B. Kaang, Dongwon Lee, 2019, Biological Psychiatry.

Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors

R. Rodriguiz, W. Wetsel, H. Yin, 2018, Translational Psychiatry.

Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.

Henry H Yin, Yong Ho Kim, Richard J Weinberg, 2017, JCI insight.

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Y. An, Bailin Wu, Yong-hui Jiang, 2014, BMC Medical Genetics.

Modeling autism in non‐human primates: Opportunities and challenges

Yong-hui Jiang, Yong-hui Jiang, Hui Zhao, 2018, Autism research : official journal of the International Society for Autism Research.

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

D. Wallace, V. Kimonis, V. Procaccio, 2011, Neuroscience Letters.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

K. M. McSweeney, D. Goldstein, R. Dhindsa, 2015, Cold Spring Harbor molecular case studies.

A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis

C. Antzelevitch, D. Tester, M. Ackerman, 2014, PloS one.

A rheostat model for a rapid and reversible form of imprinting-dependent evolution.

A. Beaudet, Yong-hui Jiang, 2002, American journal of human genetics.

Epigenetic Therapies in Neurological Diseases

B. Philpot, Hsien-Sung Huang, Yong-hui Jiang, 2013 .

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)

Z. Ou, M. L. Cooper, S. Cheung, 2008, American journal of medical genetics. Part A.

Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome

B. Roth, N. Sciaky, J. Everitt, 2016, Nature Medicine.

BAD-mediated neuronal apoptosis and neuroinflammation contribute to Alzheimer's disease pathology

A. Lin, Beicheng Sun, J. Xiang, 2021, iScience.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Stephen W. Wilson, R. Holt, E. van Binsbergen, 2019, American journal of human genetics.

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

Rebecca C. Spillmann, D. Goldstein, S. Hooper, 2016, Journal of Genetic Counseling.

Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

Harry T Orr, Aaron Ciechanover, A. Ciechanover, 1999, Neuron.

Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome

Alcino J. Silva, A. Beaudet, E. Weeber, 2003, The Journal of Neuroscience.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review

M. Mikati, Yong-hui Jiang, Sujata Kishnani, 2020, Journal of Pediatric Neurology.

Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism

D. Jabaudon, C. Bellone, Yong-hui Jiang, 2021, bioRxiv.

Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder

Yong-hui Jiang, Alexandra L. Bey, S. Hulbert, 2018, Brain and behavior.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

D. Goldstein, S. Petrovski, V. Shashi, 2015, Cold Spring Harbor molecular case studies.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Rebecca C. Spillmann, Q. K. Tan, A. Need, 2018, Genetics in Medicine.

Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice

Yong-hui Jiang, Aaron J. Towers, Xinyu Cao, 2015, Brain Research.

Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders.

S. Gregory, Xiangyin Kong, Wei Xie, 2018, JCI insight.

Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders

Yong-hui Jiang, Alexandra L. Bey, L. Chung, 2012, The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology.

Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the Brain

Yong-hui Jiang, S. Hulbert, Samuel W. Hulbert, 2017, Neuroscience Bulletin.

Quinidine in the treatment of KCNT1‐positive epilepsies

Rebecca C. Spillmann, I. Scheffer, D. Goldstein, 2015, Annals of neurology.

CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate

Zhengyi Yang, Shihua Li, Zhiguang Zhao, 2023, Cell Discovery.

Nanospring behaviour of ankyrin repeats

Peter Michaely, Khadar Abdi, Vann Bennett, 2006, Nature.

Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years

E. Fombonne, Xiu Xu, Weili Yan, 2020, Neuroscience Bulletin.

Modifying the Autism Spectrum Rating Scale (6–18 years) to a Chinese Context: An Exploratory Factor Analysis

E. Fombonne, Xiu Xu, Weili Yan, 2017, Neuroscience Bulletin.

Validity and reliability analysis of the Chinese parent version of the Autism Spectrum Rating Scale (6–18 years)

E. Fombonne, Xiu Xu, Weili Yan, 2015, Psychiatry Research.

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature

M. McDonald, M. Mikati, Yong-hui Jiang, 2018, Seizure.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Rebecca C. Spillmann, D. Goldstein, D. Wechsler, 2017, Genetics in Medicine.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Q. K. Tan, V. Shashi, K. Schoch, 2020, Genetics in Medicine.

Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis

E. Fombonne, Weili Yan, Zhongsheng Sun, 2021, Autism : the international journal of research and practice.

SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons

Yong Ho Kim, Zhi-jun Zhang, R. Ji, 2016, Neuron.

Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly

V. Bennett, Yong-hui Jiang, S. Álvarez, 2019, Proceedings of the National Academy of Sciences.

Brain-wide electrical dynamics encode individual appetitive social behavior

David Edwin Carlson, K. Dzirasa, Yael S. Grossman, 2022, Neuron.

The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling.

S. Fox, S. Loi, Y. Haupt, 2016, Cancer research.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Q. K. Tan, D. Goldstein, V. Shashi, 2020, Genetics in Medicine.

High genetic burden in 163 Chinese children with status epilepticus

Ji Wang, Yong-hui Jiang, G. Lu, 2020, Seizure.

A Presynaptic Function of Shank Protein in Drosophila

Juan Huang, U. Thomas, Yong-hui Jiang, 2017, The Journal of Neuroscience.

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

A. Beaudet, M. Brilliant, J. Noebels, 2010, PloS one.

The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans.

Yong-hui Jiang, Yanbo Teng, Yuxia Cui, 2020, Environmental pollution.

Role 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

Xiu Xu, Yong-hui Jiang, Qiong Xu, 2018, BMC Medical Genomics.

Chinese Norms for the Autism Spectrum Rating Scale

E. Fombonne, Xiu Xu, Weili Yan, 2017, Neuroscience Bulletin.

The Angelman Syndrome Protein Ube3a Is Required for Polarized Dendrite Morphogenesis in Pyramidal Neurons

Z. Xiong, Sheng Miao, Yong-hui Jiang, 2013, The Journal of Neuroscience.

Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome

H. Yin, Chunxiu Yu, Yong-hui Jiang, 2014, The European journal of neuroscience.

SHANK 3 Deficiency Impai rs Heat Hyperalgesia and TRPV 1 Signaling in Primary Sensory Neurons

Yong Ho Kim, Zhi-jun Zhang, T. Berta, 2016 .

Cross-Cultural Revision and Psychometric Properties of the Chinese Version of the Autism Spectrum Rating Scale (2–5 Years)

Xiu Xu, Weili Yan, Lijie Wu, 2018, Front. Neurol..

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

Yong-hui Jiang, S. Hulbert, Y. Jiang, 2016, Neuroscience.

Imprinting in Angelman and Prader-Willi syndromes.

J. Bressler, A. Beaudet, Yong-hui Jiang, 1998, Current opinion in genetics & development.

Association between interleukin-4 C-590 T and C + 33 T genetic polymorphisms and risk of preeclampsia in pregnant women of Central China

Yong-hui Jiang, Ya Liu, Xiaodan Zhang, 2017 .

NEUROGENETICS '99 Genetics of Angelman Syndrome

J. Bressler, A. Beaudet, E. Lev-Lehman, 1999 .

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2022, Human molecular genetics.

SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis

R. Ji, Yong-hui Jiang, S. Bang, 2023, Frontiers in Immunology.

Modeling autism in non‐human primates: Opportunities and challenges

Yong-hui Jiang, Hui Zhao, Yong Q. Zhang, 2018, Autism research : official journal of the International Society for Autism Research.

E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis.

P. Pandolfi, S. Fox, S. Lowe, 2012, Blood.