P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

Autor: Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101111- (2024)

Externí odkaz: https://doaj.org/article/08838cdb18824bf08898bac6830472ef

Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies

Autor: Heather E. Olson, Scott Demarest, Elia Pestana‐Knight, Ahsan N. Moosa, Xiaoming Zhang, José R. Pérez‐Pérez, Judy Weisenberg, Erin O’Connor Prange, Eric D. Marsh, Rajsekar R. Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle DeLeo, Lindsay Swanson, Jamie Love‐Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri

Publikováno v: Epilepsia.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8919c3dabfa8b038546daa4d63e89dbe
https://doi.org/10.1111/epi.17630

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Autor: Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

Publikováno v: Annals of clinical and translational neurology. 9(2)

Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single-gene disorders is under-characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.We perf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d693dc0df3bfd8751dd36e957feac1
https://pubmed.ncbi.nlm.nih.gov/35076175

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

Autor: Chopra, Maya¹ (AUTHOR), Gable, Dustin L.^2,3 (AUTHOR), Love‐Nichols, Jamie⁴ (AUTHOR), Tsao, Alexa⁵ (AUTHOR), Rockowitz, Shira^6,7 (AUTHOR), Sliz, Piotr⁶ (AUTHOR), Barkoudah, Elizabeth⁸ (AUTHOR), Bastianelli, Lucia⁹ (AUTHOR), Coulter, David⁸ (AUTHOR), Davidson, Emily^2,10 (AUTHOR), DeGusmao, Claudio⁸ (AUTHOR), Fogelman, David¹¹ (AUTHOR), Huth, Kathleen² (AUTHOR), Marshall, Paige⁸ (AUTHOR), Nimec, Donna¹¹ (AUTHOR), Sanders, Jessica Solomon¹² (AUTHOR), Shore, Benjamin J.⁹ (AUTHOR), Snyder, Brian⁹ (AUTHOR), Stone, Scellig S. D.¹³ (AUTHOR), Ubeda, Ana¹¹ (AUTHOR)

Publikováno v: Annals of Clinical & Translational Neurology. Feb2022, Vol. 9 Issue 2, p193-205. 13p.

Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies.

Autor: Olson, Heather E., Demarest, Scott, Pestana‐Knight, Elia, Moosa, Ahsan N., Zhang, Xiaoming, Pérez‐Pérez, José R., Weisenberg, Judy, O'Connor Prange, Erin, Marsh, Eric D., Rajaraman, Rajsekar R., Suter, Bernhard, Katyayan, Akshat, Haviland, Isabel, Daniels, Carolyn, Zhang, Bo, Greene, Caitlin, DeLeo, Michelle, Swanson, Lindsay, Love‐Nichols, Jamie, Benke, Timothy

Publikováno v: Epilepsia (Series 4); Jul2023, Vol. 64 Issue 7, p1821-1832, 12p