A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy von Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies von Galer, Peter D., Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E., Pendziwiat, Manuela, Helbig, Katherine L., Ellis, Colin A., Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo

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Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a... von Raper, Anna C, Weathers, Benita L, Drivas, Theodore G, Ellis, Colin A, Kripke, Colleen Morse, Oyer, Randall A, Owens, Anjali T, Verma, Anurag, Wileyto, Paul E, Wollack, Colin C, Zhou, Wenting, Ritchie, Marylyn D, Schnoll, Robert A, Nathanson, Katherine L

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Epilepsy genetics: clinical impacts and biological insights von Ellis, Colin A, Petrovski, Slavé, Berkovic, Samuel F

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Personalized medicine in genetic epilepsies – possibilities, challenges, and new frontiers von Helbig, Ingo, Ellis, Colin A.

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Opening the Black Box: Lessons Learned From an Interdisciplinary Inquiry Into the Learning-Based Contents of Brain Injury Rehabilitation von Hart, Tessa, PhD, Ferraro, Mary, PhD, OTR/L, Myers, Robin, PT, DPT, NCS, Ellis, Colin A., MD

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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery von Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.

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Comparative Impact of 2 Botulinum Toxin Injection Techniques for Elbow Flexor Hypertonia von Mayer, Nathaniel H., MD, Whyte, John, MD, PhD, Wannstedt, Gunilla, MS, PT, Ellis, Colin A., ScB

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Cerebrospinal Fluid in Posterior Reversible Encephalopathy Syndrome: Implications of Elevated Protein and Pleocytosis von Ellis, Colin A., McClelland, Andrew C., Mohan, Suyash, Kuo, Emory, Kasner, Scott E., Zhang, Cen, Khankhanian, Pouya, Balu, Ramani

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture von Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj R., Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif

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Interaction between visual impairment and genetic risk of dementia and psychosis in older adults von Hamedani, Ali G, Ellis, Colin A, Ehrlich, Joshua R, Willis, Allison W

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Early-onset genetic epilepsies reaching adult clinics von Lewis-Smith, David, Ellis, Colin A., Helbig, Ingo, Thomas, Rhys H.

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Seizure Detection in Continuous Inpatient EEG: A Comparison of Human vs Automated Review von Ganguly, Taneeta Mindy, Ellis, Colin A., Tu, Danni, Shinohara, Russell T., Davis, Kathryn A., Litt, Brian, Pathmanathan, Jay

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Assessing the landscape of STXBP1-related disorders in 534 individuals von Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo

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Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors von Ellis, Colin A., Ottman, Ruth, Epstein, Michael P., Berkovic, Samuel F.

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The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence von Ellis, Colin A., Berkovic, Samuel F., Epstein, Michael P., Ottman, Ruth

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Long‐term epilepsy outcome dynamics revealed by natural language processing of clinic notes von Xie, Kevin, Gallagher, Ryan S., Shinohara, Russell T., Xie, Sharon X., Hill, Chloe E., Conrad, Erin C., Davis, Kathryn A., Roth, Dan, Litt, Brian, Ellis, Colin A.

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Low rate of glutamic acid decarboxylase 65 (GAD-65) antibodies in chronic epilepsy von Tizazu, Etsegenet, Ellis, Colin A., Reichert, Julia, Lancaster, Eric

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Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias von Ellis, Colin A., Oliver, Karen L., Harris, Rebekah V., Ottman, Ruth, Scheffer, Ingrid E., Mefford, Heather C., Epstein, Michael P., Berkovic, Samuel F., Bahlo, Melanie

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Disparities in Genetic Testing for Neurologic Disorders von Baldwin, Aaron, Copeland, Juliette, Azage, Meron, Dratch, Laynie, Johnson, Kelsey, Paul, Rachel A, Amado, Defne A, Baer, Michael, Deik, Andres, Elman, Lauren B, Guo, Michael, Hamedani, Ali G, Irwin, David J, Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin C, Tropea, Thomas F, Scherer, Steven S, Shinohara, Russell T, Hamilton, Roy H, Ellis, Colin A

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