Bibliotecas PUC-SP - Busca Integrada

Recent advances in epilepsy genomics and genetic testing [version 1; peer review: 2 approved]

por Malavika Hebbar, Heather C. Mefford
Publicado en F1000Research (2020-03-01)

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

por Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos
Publicado en BMC Neurology (2024-01-01)

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

por Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer
Publicado en Nature Communications (2024-02-01)

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

por Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
Publicado en Nature Communications (2024-08-01)