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Our laboratory research focuses on the genetic basis of neural development and disorders of human development. Specifically, we study genes predicted to influence neuronal stem cell proliferation, differentiation, and migration. We are interested in the epigenetic roles of an ATP dependent chromodomain remodeling gene, CHD7, in the developing inner ear, olfactory system, and central nervous system. CHD7 pathogenic variants in humans cause CHARGE syndrome, a congenital anomaly condition that affects the brain, eyes, ears, heart, and craniofacial structures. We use genetic approaches in mice to study how loss of CHD7 disrupts neuronal and organ development. We ask how changes gene expression with loss or gain of CHD7 and related chromatin remodelers leads to phenotypic variability and how we can modify CHD7 expression or function in cells and tissues. We also participate in collaborative studies to better understand the genetic mechanisms of autism and other developmental disorders of the nervous system. Our studies impact our understanding of how the nervous system and related organs develop, and how we can design therapies to improve outcomes for people affected by these developmental disorders.
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论文共 178 篇作者统计合作学者相似作者
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Paul S Appelbaum,Sara M Berger,Elly Brokamp, Henry Shelton Brown,Wylie Burke,Ellen Wright Clayton, Barbara J Evans,Rizwan Hamid,Gary E Marchant,Donna M Martin, Bridget C O'Connor,José A Pagán,
Genetics in medicine : official journal of the American College of Medical Geneticsno. 5 (2023): 100801-100801
Elizabeth A. Werren, Alba Guxholli,Natasha Jones,Matias Wagner,Iris Hannibal,Jorge L. Granadillo,Amanda V. Tyndall,Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore,Marsha Wheeler,
Human Genetics and Genomics Advancesno. 3 (2023): 100198-100198
Cancer cellno. 1 (2023): 1-5
Guodong Chen,Bin Yu,Senwei Tan,Jieqiong Tan,Xiangbin Jia,Qiumeng Zhang,Xiaolei Zhang,Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo,Kendra Hoekzema,
Hearing research (2022): 108440-108440
Candilianne Serrano-Zayas,Matthew L. Holding,Taslima G. Khan,Vi T. Tang,Jennifer M Skidmore,Donna M Martin,David Ginsburg,Brian T. Emmer
biorxiv(2022)
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