A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution

Por Beaudet, Arthur L., Jiang, Yong-hui
Publicado em 2002

Modeling Autism by SHANK Gene Mutations in Mice

Por Jiang, Yong-hui, Ehlers, Michael D.
Publicado em 2013

Current Protocols in Pharmacology: Overview of Mouse Models of Autism Spectrum Disorders

Por Bey, Alexandra L., Jiang, Yong-hui
Publicado em 2014

Monogenic Mouse Models of Autism Spectrum Disorders: Common Mechanisms and Missing Links

Por Hulbert, Samuel W., Jiang, Yong-hui
Publicado no Neuroscience (2015)

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

Por Hulbert, Samuel W., Jiang, Yong-hui
Publicado no Neurosci Bull (2017)

Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders

Por Chung, Leeyup, Bey, Alexandra L., Jiang, Yong-Hui
Publicado em 2012

Therapeutic Approaches for Shankopathies

Por Wang, Xiaoming, Bey, Alexandra, Chang, Leeyup, Krystal, Andrew D., Jiang, Yong-hui
Publicado em 2013

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

Por Wang, Xiaoming, Xu, Qiong, Bey, Alexandra L, Lee, Yoonji, Jiang, Yong-hui
Publicado em 2014

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

Por Chung, Leeyup, Wang, Xiaoming, Zhu, Li, Towers, Aaron, Kim, Il Hwan, Jiang, Yong-hui
Publicado no Brain Res (2015)

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked Oculo-Facio-Cardio-Dental syndrome in a girl

Por Jiang, Yong-hui, Fang, Ping, Adesina, Adekunle M., Furman, Patricia, Johnston, Jennifer J., Biesecker, Leslie G., Brown, Chester W.
Publicado em 2009

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

Por Jiang, Yong-hui, Wauki, Kekio, Liu, Qian, Bressler, Jan, Pan, Yanzhen, Kashork, Catherine D, Shaffer, Lisa G, Beaudet, Arthur L
Publicado em 2008

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

Por Prasun, Pankaj, Young, Sarah, Salomons, Gajja, Werneke, Andrea, Jiang, Yong-hui, Struys, Eduard, Paige, Mikell, Avantaggiati, Maria Laura, McDonald, Marie
Publicado no JIMD Rep (2015)

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

Por Wang, Yimin, Du, Xiaonan, Bin, Rao, Yu, Shanshan, Xia, Zhezhi, Zheng, Guo, Zhong, Jianmin, Zhang, Yunjian, Jiang, Yong-hui, Wang, Yi
Publicado no Sci Rep (2017)

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

Por Smith, Carolyn L., DeVera, Darryll G., Lamb, Dolores J., Nawaz, Zafar, Jiang, Yong-Hui, Beaudet, Arthur L., O’Malley, Bert W.
Publicado em 2002

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

Por Jiang, Yong-hui, Pan, Yanzhen, Zhu, Li, Landa, Luis, Yoo, Jong, Spencer, Corinne, Lorenzo, Isabel, Brilliant, Murray, Noebels, Jeffrey, Beaudet, Arthur L.
Publicado em 2010

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

Por Du, Xiaonan, An, Yu, Yu, Lifei, Liu, Renchao, Qin, Yanrong, Guo, Xiaohong, Sun, Daokan, Zhou, Shuizhen, Wu, Bailin, Jiang, Yong-hui, Wang, Yi
Publicado em 2014

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

Por Xu, Qiong, Goldstein, Jennifer, Wang, Ping, Gadi, Inder K., Labreche, Heather, Rehder, Catherine, Wang, Wei-Ping, McConkie, Allyn, Xu, Xiu, Jiang, Yong-hui
Publicado no Pediatr Res (2016)

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

Por Zhu, Li, Wang, Xiaoming, Li, Xin-Lei, Towers, Aaron, Cao, Xinyu, Wang, Ping, Bowman, Rachel, Yang, Hyuna, Goldstein, Jennifer, Li, Yi-Ju, Jiang, Yong-Hui
Publicado em 2014

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

Por Spillmann, Rebecca C., McConkie-Rosell, Allyn, Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Walley, Nicole, Sanders, Camilla, Sullivan, Jennifer, Hooper, Stephen R., Shashi, Vandana
Publicado no Orphanet J Rare Dis (2017)

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

Por Shashi, Vandana, Petrovski, Slavé, Schoch, Kelly, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Publicado no Cold Spring Harb Mol Case Stud (2015)