Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Constance L. Smith-Hicks"'
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Autor:
Pooja Vedmurthy, Connor Murray, Belinda Chen, Akua Asiedu, Kristin Baranano, Mihee Bay, Harolyn Belcher, Vera Burton, Charles Conlon, Amena Fine, Ryan Gill, Jacqueline Harris, Khaylynn Hart, Shannon Inches, Jennifer Johnson, Eboni Lance, Paul H. Lipkin, Deepa U. Menon, Tiffany McIntyre, Meghna Rajaprakash, Albert Recio, Harvey S. Singer, Lindsay Smegal, Constance L. Smith-Hicks, Hilary Vernon, Anna Maria Wilms Floet, Joyce Wong, Karina Yelin, Mary L. O’Connor Leppert, T. Andrew Zabel, Anne M. Comi
Publikováno v:
Frontiers in Rehabilitation Sciences, Vol 3 (2022)
BackgroundThe COVID-19 pandemic uniquely affects patients with neurologic and developmental disabilities at the Kennedy Krieger Institute. These patients are at increased risk of co-morbidities, increasing their risk of contracting COVID-19. Disrupti
Externí odkaz:
https://doaj.org/article/def6c26024944610819643db055fa846
Publikováno v:
Brain Sciences, Vol 11, Iss 7, p 904 (2021)
Nearly 20% of genes located on the X chromosome are associated with neurodevelopmental disorders (NDD) due to their expression and role in brain functioning. Given their location, several of these genes are either subject to or can escape X-chromosom
Externí odkaz:
https://doaj.org/article/84b6ffa5fb5a48e78a36555fee8c3ff3
Publikováno v:
Sleep Medicine. 107:101-107
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a2211b4a3dbcd072536b319be2881c0
https://doi.org/10.1016/j.sleep.2023.04.008
https://doi.org/10.1016/j.sleep.2023.04.008
Autor:
Constance L Smith-Hicks
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 7 (2013)
The GABAergic system is central to the development and functional maturation of the nervous system. Emerging evidence support the role of GABAergic dysfunction in neuro-developmental disorders. This review presents the molecules and mechanisms that u
Externí odkaz:
https://doaj.org/article/6b3a142e5ed34db7ba4942c5a1545f89
Autor:
Yuri A. Zarate, Constance L. Smith‐Hicks, Carol Greene, Mary‐Alice Abbott, Victoria M. Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M. Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C. Wilson, Ajith Kumar, Caroline Brain, Meena Balasubramanian, Holly Dubbs, Xilma R. Ortiz‐Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M. Powell, Samantha Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E. Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S. Cohen, Ali Fatemi, Hilary J. Vernon, Rebecca McClellan, Leah R. Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E. Beck, Katie L. Golden‐Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H. Robin, Joseph W. Ray, David B. Everman, Michael J. Gambello, Wendy K. Chung
Publikováno v:
American Journal of Medical Genetics Part A. 176
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f861e0c9bb341eb303bd5df250ccfc3
https://doi.org/10.1002/ajmg.a.38671
https://doi.org/10.1002/ajmg.a.38671