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Current opinion in genetics & development, 2020-12, Vol.65, p.98-102
2020
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Epilepsia (Copenhagen), 2018-02, Vol.59 (2), p.389-402
- Johannesen, Katrine M.
- Gardella, Elena
- Linnankivi, Tarja
- Courage, Carolina
- Saint Martin, Anne
- Lehesjoki, Anna‐Elina
- Mignot, Cyril
- Afenjar, Alexandra
- Lesca, Gaetan
- Abi‐Warde, Marie‐Thérèse
- Chelly, Jamel
- Piton, Amélie
- Merritt, J. Lawrence
- Rodan, Lance H.
- Tan, Wen‐Hann
- Bird, Lynne M.
- Nespeca, Mark
- Gleeson, Joseph G.
- Yoo, Yongjin
- Choi, Murim
- Chae, Jong‐Hee
- Czapansky‐Beilman, Desiree
- Reichert, Sara Chadwick
- Pendziwiat, Manuela
- Verhoeven, Judith S.
- Schelhaas, Helenius J.
- Devinsky, Orrin
- Christensen, Jakob
- Specchio, Nicola
- Trivisano, Marina
- Weber, Yvonne G.
- Nava, Caroline
- Keren, Boris
- Doummar, Diane
- Schaefer, Elise
- Hopkins, Sarah
- Dubbs, Holly
- Shaw, Jessica E.
- Pisani, Laura
- Myers, Candace T.
- Tang, Sha
- Tang, Shan
- Pal, Deb K.
- Millichap, John J.
- Carvill, Gemma L.
- Helbig, Kathrine L.
- Mecarelli, Oriano
- Striano, Pasquale
- Helbig, Ingo
- Rubboli, Guido
- Mefford, Heather C.
- Møller, Rikke S.
2018
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American journal of human genetics, 2015-05, Vol.96 (5), p.808-815
- Carvill, Gemma L.
- McMahon, Jacinta M.
- Schneider, Amy
- Zemel, Matthew
- Myers, Candace T.
- Saykally, Julia
- Nguyen, John
- Robbiano, Angela
- Zara, Federico
- Specchio, Nicola
- Mecarelli, Oriano
- Smith, Robert L.
- Leventer, Richard J.
- Møller, Rikke S.
- Nikanorova, Marina
- Dimova, Petia
- Jordanova, Albena
- Petrou, Steven
- Helbig, Ingo
- Striano, Pasquale
- Weckhuysen, Sarah
- Berkovic, Samuel F.
- Scheffer, Ingrid E.
- Mefford, Heather C.
2015
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Epilepsy Currents, 2020-03, Vol.20 (2), p.90-96
2020
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Brain (London, England : 1878), 2021-09, Vol.144 (8), p.2237-2239
2021
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Neurotherapeutics, 2021-07, Vol.18 (3), p.1500-1514
2021
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American journal of human genetics, 2018-12, Vol.103 (6), p.1022-1029
- Carvill, Gemma L.
- Engel, Krysta L.
- Ramamurthy, Aishwarya
- Cochran, J. Nicholas
- Roovers, Jolien
- Stamberger, Hannah
- Lim, Nicholas
- Schneider, Amy L.
- Hollingsworth, Georgie
- Holder, Dylan H.
- Regan, Brigid M.
- Lawlor, James
- Lagae, Lieven
- Ceulemans, Berten
- Bebin, E. Martina
- Nguyen, John
- Striano, Pasquale
- Zara, Federico
- Helbig, Ingo
- Møller, Rikke S.
- von Spiczak, Sarah
- Muhle, Hiltrud
- Caglayan, Hande
- Sterbova, Katalin
- Craiu, Dana
- Hoffman, Dorota
- Lehesjoki, Anna-Elina
- Selmer, Kaja
- Depienne, Christel
- Lemke, Johannes
- Marini, Carla
- Guerrini, Renzo
- Neubauer, Bernd
- Talvik, Tiina
- Leguern, Eric
- de Jonghe, Peter
- Weckhuysen, Sarah
- Barsh, Gregory S.
- Meisler, Miriam
- Berkovic, Samuel F.
- De Jonghe, Peter
- Scheffer, Ingrid E.
- Myers, Richard M.
- Cooper, Gregory M.
- Mefford, Heather C.
2018
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The New England journal of medicine, 2018-04, Vol.378 (17), p.1646-1648
2018
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Epilepsy currents, 2019-05, Vol.19 (3), p.199-201
2019
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Neurology, 2015-09, Vol.85 (11), p.958
2015
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Clinical pharmacology and therapeutics, 2023-03, Vol.113 (3), p.624-633
2023
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- Carvill, Gemma L
- Heavin, Sinéad B
- Yendle, Simone C
- McMahon, Jacinta M
- O'Roak, Brian J
- Cook, Joseph
- Khan, Adiba
- Dorschner, Michael O
- Weaver, Molly
- Calvert, Sophie
- Malone, Stephen
- Wallace, Geoffrey
- Stanley, Thorsten
- Bye, Ann M E
- Bleasel, Andrew
- Howell, Katherine B
- Kivity, Sara
- Mackay, Mark T
- Rodriguez-Casero, Victoria
- Webster, Richard
- Korczyn, Amos
- Afawi, Zaid
- Zelnick, Nathanel
- Lerman-Sagie, Tally
- Lev, Dorit
- Møller, Rikke S
- Gill, Deepak
- Andrade, Danielle M
- Freeman, Jeremy L
- Sadleir, Lynette G
- Shendure, Jay
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Mefford, Heather C
2013
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Frontiers in molecular neuroscience, 2018-06, Vol.11, p.208-208
2018
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Nature genetics, 2013-09, Vol.45 (9), p.1073-1076
- Carvill, Gemma L
- Regan, Brigid M
- Yendle, Simone C
- O'Roak, Brian J
- Lozovaya, Natalia
- Bruneau, Nadine
- Burnashev, Nail
- Khan, Adiba
- Cook, Joseph
- Geraghty, Eileen
- Sadleir, Lynette G
- Turner, Samantha J
- Tsai, Meng-Han
- Webster, Richard
- Ouvrier, Robert
- Damiano, John A
- Berkovic, Samuel F
- Shendure, Jay
- Hildebrand, Michael S
- Szepetowski, Pierre
- Scheffer, Ingrid E
- Mefford, Heather C
2013
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PLoS genetics, 2015-03, Vol.11 (3), p.e1005022
- Paemka, Lily
- Mahajan, Vinit B
- Ehaideb, Salleh N
- Skeie, Jessica M
- Tan, Men Chee
- Wu, Shu
- Cox, Allison J
- Sowers, Levi P
- Gecz, Jozef
- Jolly, Lachlan
- Ferguson, Polly J
- Darbro, Benjamin
- Schneider, Amy
- Scheffer, Ingrid E
- Carvill, Gemma L
- Mefford, Heather C
- El-Shanti, Hatem
- Wood, Stephen A
- Manak, J Robert
- Bassuk, Alexander G
- Frankel, Wayne N.
2015
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Nature genetics, 2014-10, Vol.46 (10), p.1063-1071
- Coe, Bradley P
- Witherspoon, Kali
- Rosenfeld, Jill A
- van Bon, Bregje W M
- Vulto-van Silfhout, Anneke T
- Bosco, Paolo
- Friend, Kathryn L
- Baker, Carl
- Buono, Serafino
- Vissers, Lisenka E L M
- Schuurs-Hoeijmakers, Janneke H
- Hoischen, Alex
- Pfundt, Rolph
- Krumm, Nik
- Carvill, Gemma L
- Li, Deana
- Amaral, David
- Brown, Natasha
- Lockhart, Paul J
- Scheffer, Ingrid E
- Alberti, Antonino
- Shaw, Marie
- Pettinato, Rosa
- Tervo, Raymond
- de Leeuw, Nicole
- Reijnders, Margot R F
- Torchia, Beth S
- Peeters, Hilde
- O'Roak, Brian J
- Fichera, Marco
- Hehir-Kwa, Jayne Y
- Shendure, Jay
- Mefford, Heather C
- Haan, Eric
- Gécz, Jozef
- de Vries, Bert B A
- Romano, Corrado
- Eichler, Evan E
2014
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Science (American Association for the Advancement of Science), 2012-12, Vol.338 (6114), p.1619-1622
- O'Roak, Brian J.
- Vives, Laura
- Fu, Wenqing
- Egertson, Jarrett D.
- Stanaway, Ian B.
- Phelps, Ian G.
- Carvill, Gemma
- Kumar, Akash
- Lee, Choli
- Ankenman, Katy
- Munson, Jeff
- Hiatt, Joseph B.
- Turner, Emily H.
- Levy, Roie
- O'Day, Diana R.
- Krumm, Niklas
- Coe, Bradley P.
- Martin, Beth K.
- Borenstein, Elhanan
- Nickerson, Deborah A.
- Mefford, Heather C.
- Doherty, Dan
- Akey, Joshua M.
- Bernier, Raphael
- Eichler, Evan E.
- Shendure, Jay
2012
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Epilepsia (Copenhagen), 2015-09, Vol.56 (9), p.e114-e120
- Møller, Rikke S.
- Heron, Sarah E.
- Larsen, Line H. G.
- Lim, Chiao Xin
- Ricos, Michael G.
- Bayly, Marta A.
- Kempen, Marjan J. A.
- Klinkenberg, Sylvia
- Andrews, Ian
- Kelley, Kent
- Ronen, Gabriel M.
- Callen, David
- McMahon, Jacinta M.
- Yendle, Simone C.
- Carvill, Gemma L.
- Mefford, Heather C.
- Nabbout, Rima
- Poduri, Annapurna
- Striano, Pasquale
- Baglietto, Maria G.
- Zara, Federico
- Smith, Nicholas J.
- Pridmore, Clair
- Gardella, Elena
- Nikanorova, Marina
- Dahl, Hans Atli
- Gellert, Pia
- Scheffer, Ingrid E.
- Gunning, Boudewijn
- Kragh‐Olsen, Bente
- Dibbens, Leanne M.
2015
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Neurology, 2014-04, Vol.82 (14), p.1245
- Carvill, Gemma L
- Weckhuysen, Sarah
- McMahon, Jacinta M
- Hartmann, Corinna
- Møller, Rikke S
- Hjalgrim, Helle
- Cook, Joseph
- Geraghty, Eileen
- O'Roak, Brian J
- Petrou, Steve
- Clarke, Alison
- Gill, Deepak
- Sadleir, Lynette G
- Muhle, Hiltrud
- von Spiczak, Sarah
- Nikanorova, Marina
- Hodgson, Bree L
- Gazina, Elena V
- Suls, Arvid
- Shendure, Jay
- Dibbens, Leanne M
- De Jonghe, Peter
- Helbig, Ingo
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Mefford, Heather C
2014
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Neurology, 2015-02, Vol.84 (5), p.480
- Larsen, Jan
- Carvill, Gemma L
- Gardella, Elena
- Kluger, Gerhard
- Schmiedel, Gudrun
- Barisic, Nina
- Depienne, Christel
- Brilstra, Eva
- Mang, Yuan
- Nielsen, Jens Erik Klint
- Kirkpatrick, Martin
- Goudie, David
- Goldman, Rebecca
- Jähn, Johanna A
- Jepsen, Birgit
- Gill, Deepak
- Döcker, Miriam
- Biskup, Saskia
- McMahon, Jacinta M
- Koeleman, Bobby
- Harris, Mandy
- Braun, Kees
- de Kovel, Carolien G F
- Marini, Carla
- Specchio, Nicola
- Djémié, Tania
- Weckhuysen, Sarah
- Tommerup, Niels
- Troncoso, Monica
- Troncoso, Ledia
- Bevot, Andrea
- Wolff, Markus
- Hjalgrim, Helle
- Guerrini, Renzo
- Scheffer, Ingrid E
- Mefford, Heather C
- Møller, Rikke S
2015
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Developmental neuroscience, 2021-09, Vol.43 (3-4), p.241-246
2021
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Neuropharmacology, 2020-05, Vol.167, p.107702, Article 107702
2020
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Nature communications, 2024-08, Vol.15 (1), p.6524-21, Article 6524
- LaFlamme, Christy W.
- Rastin, Cassandra
- Sengupta, Soham
- Pennington, Helen E.
- Russ-Hall, Sophie J.
- Schneider, Amy L.
- Bonkowski, Emily S.
- Almanza Fuerte, Edith P.
- Allan, Talia J.
- Zalusky, Miranda Perez-Galey
- Goffena, Joy
- Gibson, Sophia B.
- Nyaga, Denis M.
- Lieffering, Nico
- Hebbar, Malavika
- Walker, Emily V.
- Darnell, Daniel
- Olsen, Scott R.
- Kolekar, Pandurang
- Djekidel, Mohamed Nadhir
- Rosikiewicz, Wojciech
- McConkey, Haley
- Kerkhof, Jennifer
- Levy, Michael A.
- Relator, Raissa
- Lev, Dorit
- Lerman-Sagie, Tally
- Park, Kristen L.
- Alders, Marielle
- Cappuccio, Gerarda
- Chatron, Nicolas
- Demain, Leigh
- Genevieve, David
- Lesca, Gaetan
- Roscioli, Tony
- Sanlaville, Damien
- Tedder, Matthew L.
- Gupta, Sachin
- Jones, Elizabeth A.
- Weisz-Hubshman, Monika
- Ketkar, Shamika
- Dai, Hongzheng
- Worley, Kim C.
- Rosenfeld, Jill A.
- Chao, Hsiao-Tuan
- Neale, Geoffrey
- Carvill, Gemma L.
- Wang, Zhaoming
- Berkovic, Samuel F.
- Sadleir, Lynette G.
- Miller, Danny E.
- Scheffer, Ingrid E.
- Sadikovic, Bekim
- Mefford, Heather C.
2024
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Human molecular genetics, 2014-06, Vol.23 (12), p.3200-3211
- Martin, Hilary C
- Kim, Grace E
- Pagnamenta, Alistair T
- Murakami, Yoshiko
- Carvill, Gemma L
- Meyer, Esther
- Copley, Richard R
- Rimmer, Andrew
- Barcia, Giulia
- Fleming, Matthew R
- Kronengold, Jack
- Brown, Maile R
- Hudspith, Karl A
- Broxholme, John
- Kanapin, Alexander
- Cazier, Jean-Baptiste
- Kinoshita, Taroh
- Nabbout, Rima
- Bentley, David
- McVean, Gil
- Heavin, Sinéad
- Zaiwalla, Zenobia
- McShane, Tony
- Mefford, Heather C
- Shears, Deborah
- Stewart, Helen
- Kurian, Manju A
- Scheffer, Ingrid E
- Blair, Edward
- Donnelly, Peter
- Kaczmarek, Leonard K
- Taylor, Jenny C
2014
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Neurology, 2013-10, Vol.81 (17), p.1507
2013
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