Selected Publications

Maimuna S. Paul, Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zeck, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L. Mester, Maria J. Guillen Sacoto,Richard Person, Pamela P. McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen,Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sebastien Moutton, Anne-Sophie Denomme-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, and Hsiao-Tuan Chao : A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. The American Journal of Human Genetics 111(1): 96-118, January 2024.

Christina L. Szperka MD, MSCE, Stephanie Witzman BA, Svetlana Ostapenko MS, John T. Farrar MD, MSCE, PhD, Jesse Yenchih Hsu PhD, Carrie P. Malavolta MSN, MBE, Janille D. Bunney CCRP, Erin M. Bange MD, MSCE, Carlyn Patterson Gentile MD, PhD, Gerardo Velasquez BS, Blanca Marquez de Prado PhD, Mahgenn Cosico BS, Meyeon Lee MD, Pamela Pojomovsky McDonnell MD, Marisa S. Prelack MD, Madeline Chadehumbe MD, Donna J. Stephenson MD, Elizabeth Kichula MD, Scott C. Tomaine DO, Andrew D. Hershey MD PhD.: Patient headache questionnaires can improve headache diagnosis and treatment in children. Headache: The Journal of Head and Face Pain 63(10): 1359-1371, December 2023.

Bianca C. Kapoor-Heaphy, Pamela Pojomovsky McDonnell, Yessenia Ortiz, Sara Molisani, Mark Ramos, Michael C. Kaufman, Mark Fitzgerald, Alexander K. Gonzalez, Nicholas S. Abend, and Ingo Helbig.: Building upon a single intervention in a Spanish-speaking population to enhance access to telemedicine in pediatric epilepsy. American Epilepsy Society, Orlando, FL December 2023 Notes: Oral Presentation.

Molisani, Sara; Parikh, Darshana; DiGiovine, Marissa; Dlugos, Dennis; Fitzgerald, Mark; Fried, Lawrence; Helbig, Ingo; Kessler, Sudha; McDonnell, Pamela; Melamed, Susan; Prelack, Marisa; Sharif, Uzma; Tefft, Sarah; Tencer, Jaclyn; Witzman, Stephanie; Shaw, Kathy; Abend, Nicholas: A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy. Epilepsia 64(10): 2818-2826, October 2023.

Benedetta Kassabian, Christina Dühring Fenger, Marjolaine WILLEMS, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky Mcdonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja Kattentidt, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon Van Slegtenhorst, Tahsin Stefan Barakat, Rikke Steensbjerre Møller, Katrine M Johannesen, Guido Rubboli: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders. Frontiers in Neuroscience, section Neurodevelopment 12(17): 1219262, July 2023.

Pamela Pojomovsky McDonnell MD, Yessenia Ortiz, Michael C. Kaufman, MS, Sara Molisani, MD, Mark Fitzgerald, MD, PhD, Julie Xian, Rahma Ali, Alexander K. Gonzalez, MS, MBA, Craig Press, MD, PhD, Nicholas S. Abend, MD, MSCE, Ingo Helbig, MD: Access to Pediatric Epilepsy Care by Telemedicine in a Spanish-Speaking Population. American Epilepsy Society meeting, Nashville, TN December 2022 Notes: Oral Presentation.

Shridhar Parthasarathy, Sarah M Ruggiero, Fernanda C Soardi, Bethânia F R Ribeiro, Douglas E V Pires, David B Ascher, Alain Schmitt, Caroline Rambaud, Hongbo M Xie, Laina Lusk, Olivia Wilmarth, Pam Pojomovsky McDonnell, Olivia A Juarez, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel Pierce, Boris Keren, Benjamin Kennedy, Antoinette Gelot, Sergio D J Pena, Ingo Helbig, Vishnu Anand Cuddapah: A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. The American Journal of Human Genetics 109(12): 2253-2269, December 2022.

Pamela Pojomovsky McDonnell, MD, Yessenia, Ortiz, Nicholas Abend, MD, MSCE, Michael Kaufman, Alexander Gonzalez, Xilma Ortiz-Gonzalez MD, PhD, Ingo Helbig, MD: A single intervention in a Spanish-speaking population enhances access to telemedicine in pediatric epilepsy. Poster selected for presentation also at Better Patient Outcomes Through Diversity. American Epilepsy Society meeting, Chicago, IL December 2021 Notes: Oral Presentation.

J. Hart, MD; M. Blackstone, MD; V. Scheid, MD; T. Kaur, MD; S. Haas, MD; P. Mcdonnell, MD: L. Fried, MD; J. Burns, MD; K. Murphy, D: Emergency Department and Inpatient Clinical Pathway for Evaluation/Treatment of Children with Febrile Seizures Without Neurologic Disease. Clinical Pathways (https://www.chop.edu/clinical-pathway/febrile-seizures-without-known-seizure-disorder-emergency-and-inpatient-clinical-pathway) 2020.

Pamela Pojomovsky McDonnell, edited by Maria Rodriguez Original authos Christina Bergqvist et al.: El manual de la Dieta Cetogenica (Spanish translation of the Ketogenic Diet Manual). The Children's Hospital of Philadephia - Department of Neurology 2017.