Heather C Mefford

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 24

Top Topics

Dna Methylation

Intellectual Disability

Top Venues

Nature communications

Epilepsy currents

This page only lists publications with an associated author ORCID identifier.

Publications

Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia (2024)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open 9 (2) (2024)
Ingrid Eileen Scheffer, Sameer M Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague
Developmental and epileptic encephalopathies. Nature reviews. Disease primers 10 (1) (2024)
Ingrid Eileen Scheffer, Sameer M Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague
Author Correction: Developmental and epileptic encephalopathies. Nature reviews. Disease primers 10 (1) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open 9 (2) (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open 9 (2) (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Denis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report. Epilepsia open (2023)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open (2023)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Miranda Galey, Joy Goffena, Sophia B Gibson, Talia J Allan, Denis M Nyaga, Nico Lieffering, Heather C Mefford, 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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Monika Weisz Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette Grant Sadleir, Danny E Miller, Ingrid Eileen Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv : the preprint server for health sciences (2023)
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O'Leary, Emily O'Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain : a journal of neurology 144 (9) (2021)
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt, Golder N Wilson, Holly Dubbs, Ethan M Goldberg, Lia Zitano, Caleb Bupp, Jose Martinez, Myriam Srour, Andrea Accogli, Afnan Alhakeem, Meira Meltzer, Andrea Gropman, Carole Brewer, Richard C Caswell, Tara Montgomery, Caoimhe McKenna, Shane McKee, Corinna Powell, Pradeep C Vasudevan, Angela F Brady, Shelagh Joss, Carolyn Tysoe, Grace Noh, Mark Tarnopolsky, Lauren Brady, Muhammad Zafar, Samantha A Schrier Vergano, Brianna Murray, Lindsey Sawyer, Bryan E Hainline, Katherine Sapp, Danielle DeMarzo, Darcy J Huismann, Ingrid M Wentzensen, Rhonda E Schnur, Kristin G Monaghan, Jane Juusola, Lindsay Rhodes, William B Dobyns, Francois Lecoquierre, Alice Goldenberg, Tilman Polster, Susanne Axer-Schaefer, Konrad Platzer, Chiara Klöckner, Trevor L Hoffman, Daniel G MacArthur, Melanie C O'Leary, Grace E VanNoy, Eleina England, Vinod C Varghese, Heather C Mefford
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genetics in medicine : official journal of the American College of Medical Genetics 23 (5) (2021)
Gemma Louise Carvill, Sandra Jansen, Amy Lacroix, Matthew Zemel, Michele Mehaffey, Petra De Vries, Han G Brunner, Ingrid Eileen Scheffer, Bert B A De Vries, Lisenka E L M Vissers, Heather C Mefford
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Developmental medicine and child neurology 63 (12) (2021)
Stephen F Traynelis, Dennis Dlugos, David Henshall, Heather C Mefford, Michael A Rogawski, Kevin J Staley, Marwan N Sabbagh, Vicky Holets Whittemore, Annapurna Poduri, null null
Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects. Epilepsy currents 20 (1_suppl) (2020)
Heather C Mefford
Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery. Epilepsy currents 20 (6) (2020)
Heather C Mefford
Phenotype to Genotype and Back Again. Epilepsy currents 20 (2) (2020)