A Simple Method to Identify Kinases That Regulate Embryonic Stem Cell Pluripotency by High-throughput Inhibitor Screening

par Williams, Charles A. C., Gray, Nathanael S., Findlay, Greg M.
Publié dans J Vis Exp (2017)

Post-translational modification of SOX family proteins: Key biochemical targets in cancer?

par Williams, Charles A.C., Soufi, Abdenour, Pollard, Steven M.
Publié dans Semin Cancer Biol (2020)

Angelman syndrome: advancing the research frontier of neurodevelopmental disorders

par Philpot, Benjamin D., Thompson, Coral E., Franco, Lisa, Williams, Charles A.
Publié 2010

Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report

par Islam, Yasmin Florence Khodeja, Williams, Charles A., Schoch, Jennifer Jane, Andrews, Israel David
Publié dans Clin Case Rep (2016)

Neurophysiology of Drosophila Models of Parkinson's Disease

par West, Ryan J. H., Furmston, Rebecca, Williams, Charles A. C., Elliott, Christopher J. H.
Publié dans Parkinsons Dis (2015)

Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

par Topiol, Emmanuelle S, Minarich, Laurie A, Williams, Charles A, Zori, Roberto T, Kays, David W, Haller, Michael J
Publié 2012

Goldenhar Syndrome Associated with Extensive Arterial Malformations

par Modica, Renee Frances, Barbeau, L. Daphna Yasova, Co-Vu, Jennifer, Beegle, Richard D., Williams, Charles A.
Publié dans Case Rep Pediatr (2015)

Erk5 Is a Key Regulator of Naive-Primed Transition and Embryonic Stem Cell Identity

par Williams, Charles A.C., Fernandez-Alonso, Rosalia, Wang, Jinhua, Toth, Rachel, Gray, Nathanael S., Findlay, Greg M.
Publié dans Cell Rep (2016)

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

par Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H
Publié 2010

LRIG1 is a gatekeeper to exit from quiescence in adult neural stem cells

par Marqués-Torrejón, María Ángeles, Williams, Charles A. C., Southgate, Benjamin, Alfazema, Neza, Clements, Melanie P., Garcia-Diaz, Claudia, Blin, Carla, Arranz-Emparan, Nerea, Fraser, Jane, Gammoh, Noor, Parrinello, Simona, Pollard, Steven M.
Publié dans Nat Commun (2021)

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

par Larson, Austin A., Baker, Peter R., Milev, Miroslav P., Press, Craig A., Sokol, Ronald J., Cox, Mary O., Lekostaj, Jacqueline K., Stence, Aaron A., Bossler, Aaron D., Mueller, Jennifer M., Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A., Sacher, Michael, Moore, Steven A.
Publié dans Skelet Muscle (2018)

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

par Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia
Publié dans Genet Med (2019)

Regional identity of human neural stem cells determines oncogenic responses to histone H3.3 mutants

par Bressan, Raul Bardini, Southgate, Benjamin, Ferguson, Kirsty M., Blin, Carla, Grant, Vivien, Alfazema, Neza, Wills, Jimi C., Marques-Torrejon, Maria Angeles, Morrison, Gillian M., Ashmore, James, Robertson, Faye, Williams, Charles A.C., Bradley, Leanne, von Kriegsheim, Alex, Anderson, Richard A., Tomlinson, Simon R., Pollard, Steven M.
Publié dans Cell Stem Cell (2021)

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

par Ramocki, Melissa B., Bartnik, Magdalena, Szafranski, Przemyslaw, Kołodziejska, Katarzyna E., Xia, Zhilian, Bravo, Jaclyn, Miller, G. Steve, Rodriguez, Diana L., Williams, Charles A., Bader, Patricia I., Szczepanik, Elżbieta, Mazurczak, Tomasz, Antczak-Marach, Dorota, Coldwell, James G., Akman, Cigdem I., McAlmon, Karen, Cohen, Melinda P., McGrath, James, Roeder, Elizabeth, Mueller, Jennifer, Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Bocian, Ewa, Shaw, Chad A., Cheung, Sau Wai, Mazurczak, Tadeusz, Stankiewicz, Paweł
Publié 2010

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

par Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Publié 2011