Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Catherine Kentros"'
Autor:
Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora M. Taylor, Wendy K. Chung
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101845- (2024)
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of varian
Externí odkaz:
https://doaj.org/article/56d3545fc21f43c5929de1bc244b9594
Autor:
Michelle Kowanda, Katina Calakos, LeeAnne Green Snyder, Catherine Kentros, Jennifer Bain, Siddharth Srivastava, Tristan Sands, Gerhard Schratt, Cora Taylor, Wendy Chung
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101049- (2024)
Externí odkaz:
https://doaj.org/article/df9cc68298bf493eac0b7efab51198e6
Autor:
Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora Taylor, Wendy Chung
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101518- (2024)
Externí odkaz:
https://doaj.org/article/570f11715d344aaa950ecaa728751034
Autor:
Rebecca Fenster, Alban Ziegler, Catherine Kentros, Alexa Geltzeiler, LeeAnne Green Snyder, Elizabeth Brooks, Wendy K. Chung
Publikováno v:
American Journal of Medical Genetics Part A. 188:1954-1963
DYRK1A haploinsufficiency syndrome is a well-established neurodevelopmental disorder, but detailed information on the range of cognitive and behavioral issues associated with the condition is limited. We studied 24 participants with likely pathogenic
Autor:
Wendy K. Chung, Alexa R. Geltzeiler, Ashley Kahen, LeeAnne Green Snyder, Catherine Kentros, Cora Taylor, Elizabeth Brooks, Haluk Kavus
Publikováno v:
Journal of Medical Genetics. 59:536-543
BackgroundSLC6A1 encodes GAT-1, a major gamma-aminobutyric acid (GABA) transporter in the brain. GAT-1 maintains neurotransmitter homeostasis by removing excess GABA from the synaptic cleft. Pathogenic variants in SLC6A1 disrupt the reuptake of GABA
Autor:
Simone Smith, Amy M. Daniels, Rebecca Smith, Cora Taylor, Jennifer Tjernagel, Christopher Lehman, L. Casey White, Lee Anne Green Snyder, Katharine Diehl, W Curtis Weaver, William Jensen, Lindsey A. Cartner, Kaitlyn Singer, Alexa R. Geltzeiler, Michelle Kowanda, Alison R. Marvin, Natalie Nagpal, J. Kiely Law, Elizabeth Brooks, Lauren Kasparson Walsh, Catherine Kentros, Caroline Mebane, Ashley Wilson, Wendy K. Chung
Publikováno v:
Journal of Child Neurology
Because of the COVID-19 pandemic, in-person services for individuals with neurodevelopmental disabilities were disrupted globally, resulting in a transition to remote delivery of services and therapies. For individuals with neurogenetic conditions, r
Autor:
Ashley, Kahen, Haluk, Kavus, Alexa, Geltzeiler, Catherine, Kentros, Cora, Taylor, Elizabeth, Brooks, LeeAnne, Green Snyder, Wendy, Chung
Publikováno v:
Journal of medical genetics. 59(6)
Medical history interviews, seizure surveys, Vineland Adaptive Behavior Scales Second Edition and other behavioural surveys were completed by primary care givers of 28 participants in Simons Searchlight. All participants underwent clinical whole exom
Autor:
Elaine M. Pereira, Priyanka Ahimaz, Carli Andrews, Kwame Anyane-Yeboa, Todor Arsov, Sara M. Berger, Ilana Chilton, Diana M. Cory, Wendy K. Chung, Katia R. Dergham, Michele M. Disco, Michelle E. Ernst, Tamar Forman, Stephanie Galloway, Alexa R. Geltzeiler, Jessica L. Giordano, Emily Griffin, Edwin Guzman, Nina Harkavy, Rebecca Hernan, Anah K. Hetzler, Alejandro Iglesias, Rupinder Kakar, Catherine Kentros, Thandiwe C. Khonje, Carrie Koval, Elana Levinson, Scott Robinson, Meredith J. Ross, Fatema Sadeque-Iqbal, Erica Spiegel, Elana Spitz, Ronald J. Wapner
Publikováno v:
Genetics in Medicine