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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.
研究兴趣
论文共 182 篇作者统计合作学者相似作者
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Jingxia Gao,Jennifer M. Skidmorea,Jelka Cimermana,K. Elaine Ritter,Jingyun Qiu, Lindsey M. Q. Wilsond,Yehoash Raphaele,Kelvin Y. Kwanb,Donna M. Martin
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAno. 10 (2024)
Carl Koschmann,Wajd N. Al-Holou,Marta M. Alonso,Jamie Anastas,Pratiti Bandopadhayay,Tara Barron,Oren Becher,Rodrigo Cartaxo,Maria G. Castro,Chan Chung, Madison Clausen,Derek Dang,Robert Doherty,Ryan Duchatel,Matthew Dun,Mariella Filbin,Andrea Franson,Stefanie Galban,Marc Garcia Moure,Hugh Garton,Pruthvi Gowda,Joana Graca Marques,Cynthia Hawkins,Allison Heath,Esther Hulleman,Sunjong Ji,Chris Jones,Lindsay Kilburn,Cassie Kline,Michael A. Koldobskiy,Daniel Lim,Pedro R. Lowenstein,Q. Richard Lu, Joanna Lum,Stephen Mack,Suresh Magge,Bernard Marini,Dana Messinger,Donna Martin, Neena Marupudi,Rajen Mody,Meredith Morgan,Mateus Mota,Karin Muraszko,Sabine Mueller,Siva Kumar Natarajan,Javad Nazarian,Michael Niculcea,Nicholas Nuechterlein,Hideho Okada,Valerie Opipari,Manjunath P. Pai,Sharmistha Pal,Erik Peterson,Timothy Phoenix,John R. Prensner,Matthew Pun,G. Praveen Raju,Zachary J. Reitman,Adam Resnick,David Rogawski,Amanda Saratsis,Stefanie G. Sbergio,Mark Souweidane,James M. Stafford,Theophilos Tzaridis,Sujatha Venkataraman,Orazio Vittorio,Jack Wadden,Daniel Wahl,Robert J. Wechsler-Reya,Viveka Nand Yadav,Qiang Zhang,Xu Zhang,Sriram Venneti
CANCER CELLno. 1 (2024): 1-5
Elizabeth A. Werren, Alba Guxholli,Natasha Jones,Matias Wagner,Iris Hannibal,Jorge L. Granadillo,Amanda Tyndall,Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski,Debra L. Day-Salvatore,Marsha Wheeler,Jessica X. Chong,Michael J. Bamshad,A. Micheil Innes,Tyler Mark Pierson,Joel P. Mackay,Stephanie L. Bielas,Donna M. Martin
Human Genetics and Genomics Advancesno. 3 (2023)
Genetics in medicine official journal of the American College of Medical Geneticsno. 5 (2023): 100801-100801
Kanakadurga Singer,Courtney Julia Burns,Kent A Griffith, Valerie Castle Opipari,Donna M Martin,Renée A Shellhaas,Reshma Jagsi
The Journal of pediatrics (2022): 38-39.e1
Hearing Research (2022): 108440
Guodong Chen,Bin Yu,Senwei Tan,Jieqiong Tan,Xiangbin Jia,Qiumeng Zhang,Xiaolei Zhang,Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo,Kendra Hoekzema,Raphael A. Bernier,Rachel K. Earl,Evangeline C. Kurtz-Nelson,Michaela J. Idleburg,Suneeta Madan-Khetarpal,Rebecca Clark,Jessica Sebastian,Alberto Fernandez-Jaen,Sara Alvarez, Staci D. King,Luiza L. P. Ramos,Mara Lucia S. F. Santos,Donna M. Martin, Dan Brooks,Joseph D. Symonds,Ioana Cutcutache,Qian Pan,Zhengmao Hu,Ling Yuan,Evan E. Eichler,Kun Xia,Hui Guo
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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作者统计
#Papers: 183
#Citation: 8639
H-Index: 43
G-Index: 89
Sociability: 7
Diversity: 3
Activity: 23
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