Chromatin Remodeling in Development and Disease: Focus on CHD7

por Martin, Donna M.
Publicado 2010

Super Enhancers in Cancers, Complex Disease, and Developmental Disorders

por Niederriter, Adrienne R., Varshney, Arushi, Parker, Stephen C. J., Martin, Donna M.
Publicado 2015

The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder

por Velasquez, Francisco, Wiggins, Jillian Lee, Mattson, Whitney I., Martin, Donna M., Lord, Catherine, Monk, Christopher S.
Publicado 2016

Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Chd7 Mutant Mouse Ear

por Durruthy-Durruthy, Robert, Sperry, Ethan D., Bowen, Margot E., Attardi, Laura D., Heller, Stefan, Martin, Donna M.
Publicado 2018

The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders()

por Wiggins, Jillian Lee, Peltier, Scott J., Bedoyan, Jirair K., Carrasco, Melisa, Welsh, Robert C., Martin, Donna M., Lord, Catherine, Monk, Christopher S.
Publicado 2012

GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function

por Guo, Jingying, Ma, Xiaobo, Skidmore, Jennifer M., Cimerman, Jelka, Prieskorn, Diane M., Beyer, Lisa A., Swiderski, Donald L., Dolan, David F., Martin, Donna M., Raphael, Yehoash
Publicado 2021

Meis2 Is Required for Inner Ear Formation and Proper Morphogenesis of the Cochlea

por Durán Alonso, María Beatriz, Vendrell, Victor, López-Hernández, Iris, Alonso, María Teresa, Martin, Donna M., Giráldez, Fernando, Carramolino, Laura, Giovinazzo, Giovanna, Vázquez, Enrique, Torres, Miguel, Schimmang, Thomas
Publicado 2021

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

por Moccia, Amanda, Srivastava, Anshika, Skidmore, Jennifer M., Bernat, John A., Wheeler, Marsha, X.Chong, Jessica, Nickerson, Deborah, Bamshad, Michael, Hefner, Margaret A., Martin, Donna M., Bielas, Stephanie L.
Publicado 2018

CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct

por Roux, Isabelle, Fenollar-Ferrer, Cristina, Lee, Hyun Jae, Chattaraj, Parna, Lopez, Ivan A., Han, Kyungreem, Honda, Keiji, Brewer, Carmen C., Butman, John A., Morell, Robert J., Martin, Donna M., Griffith, Andrew J.
Publicado 2023

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

por Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Publicado 2011

CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression

por Yao, Hui, Hannum, Douglas F., Zhai, Yiwen, Hill, Sophie F., Albanus, Ricardo D.’Oliveira, Lou, Wenjia, Skidmore, Jennifer M., Sanchez, Gilson, Saiakhova, Alina, Bielas, Stephanie L., Scacheri, Peter, Ljungman, Mats, Parker, Stephen C. J., Martin, Donna M.
Publicado 2020

Genetic specification of left–right asymmetry in the diaphragm muscles and their motor innervation

por Charoy, Camille, Dinvaut, Sarah, Chaix, Yohan, Morlé, Laurette, Sanyas, Isabelle, Bozon, Muriel, Kindbeiter, Karine, Durand, Bénédicte, Skidmore, Jennifer M, De Groef, Lies, Seki, Motoaki, Moons, Lieve, Ruhrberg, Christiana, Martin, James F, Martin, Donna M, Falk, Julien, Castellani, Valerie
Publicado 2017

Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8

por Marie, Corentine, Clavairoly, Adrien, Frah, Magali, Hmidan, Hatem, Yan, Jun, Zhao, Chuntao, Van Steenwinckel, Juliette, Daveau, Romain, Zalc, Bernard, Hassan, Bassem, Thomas, Jean-Léon, Gressens, Pierre, Ravassard, Philippe, Moszer, Ivan, Martin, Donna M., Lu, Q. Richard, Parras, Carlos
Publicado 2018

Chd7 Cooperates with Sox10 and Regulates the Onset of CNS Myelination and Remyelination

por He, Danyang, Marie, Corentine, Zhao, Chuntao, Kim, Bongwoo, Wang, Jincheng, Deng, Yaqi, Clavairoly, Adrien, Frah, Magali, Wang, Haibo, He, Xuelian, Hmidan, Hatem, Jones, Blaise V., Witte, David, Zalc, Bernard, Zhou, Xin, Choo, Daniel I., Martin, Donna M., Parras, Carlos, Lu, Q. Richard
Publicado 2016

Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

por Bedoyan, Jirair Krikor, Schaibley, Valerie M, Peng, Weiping, Bai, Yongsheng, Mondal, Kajari, Shetty, Amol C, Durham, Mark, Micucci, Joseph A, Dhiraaj, Arti, Skidmore, Jennifer M, Kaplan, Julie B, Skinner, Cindy, Schwartz, Charles E, Antonellis, Anthony, Zwick, Michael E, Cavalcoli, James D, Li, Jun Z, Martin, Donna M
Publicado 2012

Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome

por Van Nostrand, Jeanine L., Brady, Colleen A., Jung, Heiyoun, Fuentes, Daniel R., Kozak, Margaret M., Johnson, Thomas M., Lin, Chieh-Yu, Lin, Chien-Jung, Swiderski, Donald L., Vogel, Hannes, Bernstein, Jonathan A., Attié-Bitach, Tania, Chang, Ching-Pin, Wysocka, Joanna, Martin, Donna M., Attardi, Laura D.
Publicado 2014

Harnessing molecular motors for nanoscale pulldown in live cells

por Bird, Jonathan E., Barzik, Melanie, Drummond, Meghan C., Sutton, Daniel C., Goodman, Spencer M., Morozko, Eva L., Cole, Stacey M., Boukhvalova, Alexandra K., Skidmore, Jennifer, Syam, Diana, Wilson, Elizabeth A., Fitzgerald, Tracy, Rehman, Atteeq U., Martin, Donna M., Boger, Erich T., Belyantseva, Inna A., Friedman, Thomas B.
Publicado 2017

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

por Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.
Publicado 2023

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

por Ziats, Mark N., Ahmad, Ayesha, Bernat, John A., Fisher, Rachel, Glassford, Megan, Hannibal, Mark C., Jacher, Joseph E., Weiser, Natasha, Keegan, Catherine E., Lee, Kristen N., Marzulla, Tessa B., O’Connor, Bridget C., Quinonez, Shane C., Seemann, Lauren, Turner, Lauren, Bielas, Stephanie, Harris, Nicholas L., Ogle, Jacob D., Innis, Jeffrey W., Martin, Donna M.
Publicado 2019

Common genetic variants, acting additively, are a major source of risk for autism

por Klei, Lambertus, Sanders, Stephan J, Murtha, Michael T, Hus, Vanessa, Lowe, Jennifer K, Willsey, A Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Lord, Catherine, Mane, Shrikant M, Martin, Christa Lese, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Melhem, Nadine M, Chaste, Pauline, Sutcliffe, James S, State, Matthew W, Cook, Edwin H, Roeder, Kathryn, Devlin, Bernie
Publicado 2012