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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

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issue: In The Lancet Neurology September 2023 22(9):812-825
Author: D'Gama, Alissa M
Mulhern, Sarah
Sheidley, Beth R
Boodhoo, Fadil
Buts, Sarah
Chandler, Natalie J
Cobb, Joanna
Curtis, Meredith
Higginbotham, Edward J
Holland, Jonathon
Khan, Tayyaba
Koh, Julia
Liang, Nicole S Y
McRae, Lyndsey
Nesbitt, Sarah E
Oby, Brandon T
Paternoster, Ben
Patton, Alistair
Rose, Graham
Scotchman, Elizabeth
Valentine, Rozalia
Wiltrout, Kimberly N
Hayeems, Robin Z
Jain, Puneet
Lunke, Sebastian
Marshall, Christian R
Rockowitz, Shira
Sebire, Neil J
Stark, Zornitza
White, Susan M
Chitty, Lyn S
Cross, J Helen
Scheffer, Ingrid E
Chau, Vann ^†
Costain, Gregory ^†
Poduri, Annapurna ^†
Howell, Katherine B ^†
McTague, Amy ^{†, *}
DB Label: Database : ScienceDirect

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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issue: NATURE GENETICS; SEP 2023, 55 9, p1471-p+, 21p.
Author: Stevelink, Remi
Campbell, Ciaran
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, Betul
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
Glauser, Tracy
Goldberg, Ethan
Goldman, Alicia
Granata, Tiziana
Greenberg, David A.
Guerrini, Renzo
Gupta, Namrata
Haas, Kevin F.
Hakonarson, Hakon
Hallmann, Kerstin
Hassanin, Emadeldin
Hegde, Manu
Heinzen, Erin L.
Helbig, Ingo
Hengsbach, Christian
Heyne, Henrike O.
Hirose, Shinichi
Hirsch, Edouard
Hjalgrim, Helle
Howrigan, Daniel P.
Hucks, Donald
Hung, Po-Cheng
Iacomino, Michele
Imbach, Lukas L.
Inoue, Yushi
Ishii, Atsushi
Jamnadas-Khoda, Jennifer
Jehi, Lara
Johnson, Michael R.
Kalviainen, Reetta
Kamatani, Yoichiro
Kanaan, Moien
Kanai, Masahiro
Kantanen, Anne-Mari
Kara, Bulent
Kariuki, Symon M.
Kasperaviciute, Dalia
Trenite, Dorothee Kasteleijn-Nolst
Kato, Mitsuhiro
Kegele, Josua
Kesim, Yescommaim
Khoueiry-Zgheib, Nathalie
King, Chontelle
Kirsch, Heidi E.
Klein, Karl M.
Kluger, Gerhard
Knake, Susanne
Knowlton, Robert C.
Koeleman, Bobby P. C.
Korczyn, Amos D.
Koupparis, Andreas
Kousiappa, Ioanna
Krause, Roland
Krenn, Martin
Krestel, Heinz
Krey, Ilona
Kunz, Wolfram S.
Kurki, Mitja I.
Kurlemann, Gerhard
Kuzniecky, Ruben
Kwan, Patrick
Labate, Angelo
Lacey, Austin
Lal, Dennis
Landoulsi, Zied
Lau, Yu-Lung
Lauxmann, Stephen
Leech, Stephanie L.
Lehesjoki, Anna-Elina
Lemke, Johannes R.
Lerche, Holger
Lesca, Gaetan
Leu, Costin
Lewin, Naomi
Lewis-Smith, David
Li, Gloria H. -Y.
Li, Qingqin S.
Licchetta, Laura
Lin, Kuang-Lin
Lindhout, Dick
Linnankivi, Tarja
Lopes-Cendes, Iscia
Lowenstein, Daniel H.
Lui, Colin H. T.
Madia, Francesca
Magnusson, Sigurdur
Marson, Anthony G.
May, Patrick
McGraw, Christopher M.
Mei, Davide
Mills, James L.
Minardi, Raffaella
Mirza, Nasir
Moller, Rikke S.
Molloy, Anne M.
Montomoli, Martino
Mostacci, Barbara
Muccioli, Lorenzo
Muhle, Hiltrud
Mueller-Schlueter, Karen
Najm, Imad M.
Nasreddine, Wassim
Neale, Benjamin M.
Neubauer, Bernd
Newton, Charles R. J. C.
Noethen, Markus M.
Nothnagel, Michael
Nuernberg, Peter
O'Brien, Terence J.
Okada, Yukinori
Olafsson, Elias
Oliver, Karen L.
Ozkara, Cigdem
Palotie, Aarno
Pangilinan, Faith
Papacostas, Savvas S.
Parrini, Elena
Pato, Carlos N.
Pato, Michele T.
Pendziwiat, Manuela
Petrovski, Slave
Pickrell, William O.
Pinsky, Rebecca
Pippucci, Tommaso
Poduri, Annapurna
Pondrelli, Federica
Powell, Rob H. W.
Privitera, Michael
Rademacher, Annika
Radtke, Rodney
Ragona, Francesca
Rau, Sarah
Rees, Mark I.
Regan, Brigid M.
Reif, Philipp S.
Rhelms, Sylvain
Riva, Antonella
Rosenow, Felix
Ryvlin, Philippe
Saarela, Anni
Sadleir, Lynette G.
Sander, Josemir W.
Sander, Thomas
Scala, Marcello
Scattergood, Theresa
Schachter, Steven C.
Schankin, Christoph J.
Scheffer, Ingrid E.
Schmitz, Bettina
Schoch, Susanne
Schubert-Bast, Susanne
Schulze-Bonhage, Andreas
Scudieri, Paolo
Sham, Pak
Sheidley, Beth R.
Shih, Jerry J.
Sills, Graeme J.
Sisodiya, Sanjay M.
Smith, Michael C.
Smith, Philip E.
Sonsma, Anja C. M.
Speed, Doug
Sperling, Michael R.
Stefansson, Hreinn
Stefansson, Kari
Steinhoff, Bernhard J.
Stephani, Ulrich
Stewart, William C.
Stipa, Carlotta
Striano, Pasquale
Stroink, Hans
Strzelczyk, Adam
Surges, Rainer
Suzuki, Toshimitsu
Tan, K. Meng
Taneja, R. S.
Tanteles, George A.
Tauboll, Erik
Thio, Liu Lin
Thomas, G. Neil
Thomas, Rhys H.
Timonen, Oskari
Tinuper, Paolo
Todaro, Marian
Topaloglu, Pinar
Tozzi, Rossana
Tsai, Meng-Han
Tumiene, Birute
Turkdogan, Dilsad
Unnsteinsdottir, Unnur
Utkus, Algirdas
Vaidiswaran, Priya
Valton, Luc
van Baalen, Andreas
Vetro, Annalisa
Vining, Eileen P. G.
Visscher, Frank
von Brauchitsch, Sophie
von Wrede, Randi
Wagner, Ryan G.
Weber, Yvonne G.
Weckhuysen, Sarah
Weisenberg, Judith
Weller, Michael
Widdess-Walsh, Peter
Wolff, Markus
Wolking, Stefan
Wu, David
Yamakawa, Kazuhiro
Yang, Wanling
Yapici, Zuhal
Yucesan, Emrah
Zagaglia, Sara
Zahnert, Felix
Zara, Federico
Zhou, Wei
Zimprich, Fritz
Zsurka, Gabor
Ali, Quratulain Zulfiqar
Int League Against Epilepsy
DB Label: Database : Science Citation Index Expanded

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Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

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issue: PEDIATRIC NEUROLOGY; JAN 2023, 138 p71-p80, 10p.
Author: Haviland, Isabel
Daniels, Carolyn I.
Greene, Caitlin A.
Drew, Jacqueline
Love-Nichols, Jamie A.
Swanson, Lindsay C.
Smith, Lacey
Nie, Duyu A.
Benke, Timothy
Sheidley, Beth R.
Zhang, Bo
Poduri, Annapurna
Olson, Heather E.
DB Label: Database : Science Citation Index Expanded

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Genetic testing for the epilepsies: A systematic review

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issue: EPILEPSIA; DEC 10 2021, 13p.
Author: Sheidley, Beth R.
Malinowski, Jennifer
Bergner, Amanda L.
Bier, Louise
Gloss, David S.
Mu, Weiyi
Mulhern, Maureen M.
Partack, Emily J.
Poduri, Annapurna
DB Label: Database : Science Citation Index Expanded

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Copy number variation plays an important role in clinical epilepsy

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issue: Annals of Neurology. Jun 01, 2014 75(6):943-958
Author: Olson, Heather
Shen, Yiping
Avallone, Jennifer
Sheidley, Beth R.
Pinsky, Rebecca
Bergin, Ann M.
Berry, Gerard T.
Duffy, Frank H.
Eksioglu, Yaman
Harris, David J.
Hisama, Fuki M.
Ho, Eugenia
Irons, Mira
Jacobsen, Christina M.
James, Philip
Kothare, Sanjeev
Khwaja, Omar
Lipton, Jonathan
Loddenkemper, Tobias
Markowitz, Jennifer
Maski, Kiran
Megerian, Thomas J.
Neilan, Edward
Raffalli, Peter C.
Robbins, Michael
Roberts, Amy
Roe, Eugene
Rollins, Caitlin
Sahin, Mustafa
Sarco, Dean
Schonwald, Alison
Smith, Sharon E.
Soul, Janet
Stoler, Joan M.
Takeoka, Masanori
Tan, Wen-Han
Torres, Alcy R.
Tsai, Peter
Urion, David K.
Weissman, Laura
Wolff, Robert
Wu, Bai-Lin
Miller, David T.
Poduri, Annapurna
DB Label: Database : Journals@OVID

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Genetic testing for the epilepsies: A systematic review.

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issue: Epilepsia (Series 4). Feb2022, Vol. 63 Issue 2, p375-387. 13p.
Author: Sheidley, Beth R.¹ (AUTHOR) beth.sheidley@childrens.harvard.edu
Malinowski, Jennifer² (AUTHOR)
Bergner, Amanda L.³ (AUTHOR)
Bier, Louise⁴ (AUTHOR)
Gloss, David S.⁵ (AUTHOR)
Mu, Weiyi⁶ (AUTHOR)
Mulhern, Maureen M.^7,8 (AUTHOR)
Partack, Emily J.⁹ (AUTHOR)
Poduri, Annapurna^1,10 (AUTHOR)
DB Label: Database : Academic Search Complete

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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

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issue: EPILEPSIA; MAR 2020, 61 3, p387-p399, 13p.
Author: Brunklaus, Andreas
Du, Juanjiangmeng
Steckler, Felix
Ghanty, Ismael I.
Johannesen, Katrine M.
Fenger, Christina Duhring
Schorge, Stephanie
Baez-Nieto, David
Wang, Hao-Ran
Allen, Andrew
Pan, Jen Q.
Lerche, Holger
Heyne, Henrike
Symonds, Joseph D.
Zuberi, Sameer M.
Sanders, Stephan
Sheidley, Beth R.
Craiu, Dana
Olson, Heather E.
Weckhuysen, Sarah
DeJonge, Peter
Helbig, Ingo
Van Esch, Hilde
Busa, Tiffany
Milh, Matthieu
Isidor, Bertrand
Depienne, Christel
Poduri, Annapurna
Campbell, Arthur J.
Dimidschstein, Jordane
Moller, Rikke S.
Lal, Dennis
DB Label: Database : Science Citation Index Expanded

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

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