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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
- Howrigan, Daniel P.
- Abbott, Liam E.
- Tashman, Katherine
- Singh, Tarjinder
- Watts, Nick
- Lal, Dennis
- Hakonarson, Hakon
- Weckhuysen, Sarah
- Petrovski, Slavé
- Cossette, Patrick
- Cotsapas, Chris
- De Jonghe, Peter
- Guerrini, Renzo
- Marson, Anthony G.
- Depondt, Chantal
- Striano, Pasquale
- Freyer, Catharine
- Regan, Brigid M.
- Leu, Costin
- Johns, Esther M.C.
- Macdonald, Alexandra
- Bahlo, Melanie
- Todaro, Marian
- Stamberger, Hannah
- Sadoway, Tara R.
- Kousiappa, Ioanna
- Tanteles, George A.
- Štěrbová, Katalin
- Kunz, Wolfram S.
- Zsurka, Gábor
- Elger, Christian E.
- Rademacher, Michael
- van Baalen, Andreas
- von Spiczak, Sarah
- Afawi, Zaid
- Canavati, Christina
- Kluger, Gerhard
- Blatt, Ilan
- Weber, Yvonne G.
- Wolking, Stefan
- Rau, Sarah
- Steinhoff, Bernhard J.
- Schulze-Bonhage, Andreas
- Borggräfe, Ingo
- Madeleyn, Rene
- Kälviäinen, Reetta
- Linnankivi, Tarja
- Chung, Seo-Kyung
- Balestrini, Simona
- Braatz, Vera
- Johnson, Michael R.
- Auce, Pauls
- Sham, Pak C.
- Lui, Colin H.T.
- Doherty, Colin P.
- Shukralla, Arif
- El-Naggar, Hany
- Vari, Maria Stella
- Salpietro, Vincenzo
- Tinuper, Paolo
- Gagliardi, Monica
- Montomoli, Martino
- Doccini, Viola
- Inoue, Yushi
- Yamakawa, Kazuhiro
- Tumiene, Birute
- Sadleir, Lynette G.
- Caglayan, S. Hande
- Arslan, Mutluay
- Yis, Uluc
- Topaloglu, Pınar
- Baykan, Betül
- Salman, Barış
- Haryanyan, Garen
- Özkara, Çiğdem
- Poduri, Annapurna
- Shiedley, Beth R.
- Shain, Catherine
- French, Jacqueline A.
- Kuzniecky, Ruben I.
- Hegde, Manu
- Helbig, Katherine L.
- Piras, Federica
- Reif, Andreas
- McQuillin, Andrew
- Johnstone, Mandy
- Palotie, Aarno
- Carvalho, Celia Barreto
- Achtyes, Eric D.
- Azevedo, Maria Helena
- Kotov, Roman
- Lehrer, Douglas S.
- Marder, Stephen R.
- Medeiros, Helena
- Morley, Christopher P.
- Rapaport, Mark H.
- Knowles, James A.
- McCarroll, Steven A.
- Lowenstein, Daniel H.
- Goldstein, David B.
2019
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Archives des maladies du coeur et des vaisseaux, 1977-05, Vol.70 (5), p.493
1977
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American journal of human genetics, 2021-06, Vol.108 (6), p.965-982
- Povysil, Gundula
- Allen, Andrew S.
- Howrigan, Daniel P.
- Tashman, Katherine
- Cerrato, Felecia
- Cusick, Caroline
- Heyne, Henrike
- Churchhouse, Claire
- Watts, Nick
- Lal, Dennis
- Gupta, Namrata
- Cavalleri, Gianpiero L.
- Hakonarson, Hakon
- Marson, Anthony G.
- Petrovski, Slavé
- Sisodiya, Sanjay M.
- Depondt, Chantal
- Scheffer, Ingrid E.
- Krause, Roland
- Regan, Brigid M.
- Leu, Costin
- Leech, Stephanie L.
- Todaro, Marian
- Stamberger, Hannah
- Kousiappa, Ioanna
- Tanteles, George A.
- Christou, Yiolanda
- Laššuthová, Petra
- Knake, Susanne
- Kunz, Wolfram S.
- Zsurka, Gábor
- Surges, Rainer
- Rademacher, Annika
- von Spiczak, Sarah
- Kanaan, Moien
- Canavati, Christina
- Lemke, Johannes R.
- Krey, Ilona
- Weber, Yvonne G.
- Wolking, Stefan
- Kegele, Josua
- Borggräfe, Ingo
- Mayer, Thomas
- Brockmann, Knut
- Madeleyn, Rene
- Saarela, Anni
- Linnankivi, Tarja
- Lehesjoki, Anna-Elina
- Derambure, Philippe
- Hirsch, Edouard
- Chassoux, Francine
- Chung, Seo-Kyung
- Schneider, Natascha
- Balestrini, Simona
- Zagaglia, Sara
- Johnson, Michael R.
- Auce, Pauls
- Barišić, Nina
- Canafoglia, Laura
- Franceschetti, Silvana
- Castellotti, Barbara
- Granata, Tiziana
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- Iacomino, Michele
- Riva, Antonella
- Vari, Maria Stella
- Salpietro, Vincenzo
- Mancardi, Maria Margherita
- Nobili, Lino
- Bisulli, Francesca
- Pippucci, Tommaso
- Licchetta, Laura
- Tinuper, Paolo
- Gambardella, Antonio
- Labate, Angelo
- Annesi, Grazia
- Manna, Lorella
- Parrini, Elena
- Bianchini, Claudia
- Montomoli, Martino
- Hirose, Shinichi
- Yamakawa, Kazuhiro
- Beydoun, Ahmad
- Sadleir, Lynette G.
- Topaloglu, Pınar
- Baykan, Betül
- Özkara, YeşÇiğdem
- Ho, Chen-Jui
- Chou, I-Jun
- Shain, Catherine
- Goldman, Alicia
- Busch, Robyn M.
- Jehi, Lara
- Ferguson, Lisa
- Clark, Peggy O.
- Privitera, Michael
- Schachter, Steven
- Cosico, Mahgenn
- Lowenstein, Daniel H.
- Goldstein, David B.
2021
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Spine (Philadelphia, Pa. 1976), 2006-10, Vol.31 (22), p.2609-2613
2006
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Marine pollution bulletin, 2012-01, Vol.65 (10-12), p.441-452
2012
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Medicine and science in sports and exercise, 2023-09, Vol.55 (9S), p.194-194
2023
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The Journal of urology, 2015-12, Vol.194 (6), p.1661
2015
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Journal of endourology, 2023-08, Vol.37 (8), p.863
- Gerrity, Jillian J
- Berger, Jonathan H
- Hsi, Ryan S
- Friedlander, David F
- Stern, Karen L
- Chew, Ben H
- Nimmagadda, Naren
- Kavoussi, Nicholas L
- Chen, Tony T
- Krambeck, Amy E
- Large, Tim
- Bechis, Seth K
- Monga, Manoj
- Miller, Nicole L
- Lange, Dirk
- Knudsen, Bodo
- Sourial, Michael W
- Humphreys, Mitchell R
- Shah, Ojas
- Abbott, Joel E
- Abedi, Garen
- Sur, Roger L
2023
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Journal of cardiovascular electrophysiology, 2024-04, Vol.35 (4), p.715-726
2024
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Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3473-3481
2019
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Medicine and science in sports and exercise, 2023-09, Vol.55 (9S), p.299-299
2023
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Shock waves, 2016-07, Vol.26 (4), p.385-394
2016
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Proceedings of the National Academy of Sciences - PNAS, 2023-04, Vol.120 (15), p.1
- Garen, Josef C
- Aparecido, Luiza Maria T
- Blonder, Benjamin W
- Cavaleri, Molly A
- Slot, Martijn
- Michaletz, Sean T
- Still, Christopher J
- Page, Gerald F M
- Rastogi, Bharat
- Griffith, Daniel M
- Aubrecht, Donald M
- Kim, Youngil
- Burns, Sean P
- Hanson, Chad V
- Kwon, Hyojung
- Hawkins, Linnia
- Meinzer, Frederick C
- Sevanto, Sanna
- Roberts, Dar A
- Goulden, Mike
- Pau, Stephanie
- Detto, Matteo
- Helliker, Brent R
- Richardson, Andrew D
2023
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Journal of endourology, 2023-06, Vol.37 (6), p.617
- Wong, Victor K F
- Que, Jessica
- Kong, Emily K
- Abedi, Garen
- Nimmagadda, Naren
- Emmott, Anthony S
- Paterson, Ryan F
- Lange, Dirk
- Lundeen, Colin J
- Nevo, Amihay
- Shee, Kevin
- Moore, Jonathan
- Pais, Vernon
- Sur, Roger L
- Bechis, Seth K
- Miller, Nicole L
- Hsi, Ryan
- Knudsen, Bodo E
- Sourial, Michael
- Humphreys, Mitchell R
- Stern, Karen L
- Eisner, Brian H
- Chew, Ben H
2023
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Urolithiasis, 2023-03, Vol.51 (1), p.48-48, Article 48
2023
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Urology video journal, 2020-12, Vol.8, p.100076, Article 100076
2020
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Annals of the rheumatic diseases, 2014-06, Vol.73 (Suppl 2), p.566-566
2014
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Proceedings of the National Academy of Sciences - PNAS, 1995-08, Vol.92 (18), p.8205-8209
1995
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Applied physics. B, Lasers and optics, 2012-08, Vol.108 (2), p.345-351
2012
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Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.1518-1527
- Smith, Alexander W.
- Carpay, Johannes A.
- Devinsky, Orrin
- Braun, Kees P. J.
- Smit, Dirk J. A.
- Avbersek, Andreja
- Becker, Albert J.
- Berkovic, Samuel F.
- Boysen, Katja E.
- Campbell, Ellen
- Cascino, Gregory D.
- Catarino, Claudia B.
- Chinthapalli, Krishna
- Coffey, Alison J.
- Coppola, Antonietta
- Cossette, Patrick
- De Jonghe, Peter
- Dlugos, Dennis J.
- Feucht, Martha
- Freytag, Saskia
- Geller, Eric B.
- Guo, Youling
- Hakonarson, Hakon
- Haut, Sheryl
- Heinzen, Erin L.
- Hengsbach, Christian
- Johnson, Michael R.
- Kälviäinen, Reetta
- Kirsch, Heidi E.
- Lau, Yu‐Lung
- Lehesjoki, Anna‐Elina
- Lerche, Holger
- Lieb, Wolfgang
- Malovini, Alberto
- McCormack, Mark
- Molloy, Anne M.
- Rau, Sarah
- Schachter, Steven C.
- Vari, Maria S.
- Weber, Yvonne G.
- Weisenberg, Judith
- Wolff, Markus
- Yang, Wanling
- Zara, Federico
- Howrigan, Daniel P.
- Cerrato, Felecia
- Gabriel, Stacey B.
- Daly, Mark J.
- Neale, Benjamin M.
- Lowenstein, Daniel H.
- Cotsapas, Chris
- Petrovski, Slavé
- Sisodiya, Sanjay M.
- Freyer, Catharine
- McKenna, Kevin
- Bennett, Caitlin A.
- Burgess, Rosemary
- O'Brien, Terence J.
- Stamberger, Hannah
- Krestel, Heinz
- Gallati, Sabina
- Papacostas, Savvas S.
- Tanteles, George A.
- Klein, Karl Martin
- Rademacher, Michael
- Afawi, Zaid
- Korczyn, Amos D.
- Kanaan, Moien
- Lemke, Johannes R.
- Wolking, Stefan
- Schulze‐Bonhage, Andreas
- Schubert‐Bast, Susanne
- Korinthenberg, Rudolf
- Dennig, Dieter
- Madeleyn, Rene
- Linnankivi, Tarja
- Rees, Mark I.
- Schneider, Natascha
- Sills, Graeme J.
- Shukralla, Arif
- Canafoglia, Laura
- Franceschetti, Silvana
- Iacomino, Michele
- Stella Vari, Maria
- Salpietro, Vincenzo
- Labate, Angelo
- Manna, Lorella
- Parrini, Elena
- Inoue, Yushi
- Topaloglu, Pınar
- Yücesan, Emrah
- Poduri, Annapurna
- Buono, Russell J.
- Sperling, Michael R.
- Lo, Warren
- Hegde, Manu
- Helbig, Katherine L.
2021
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Pediatrics (Evanston), 2013-11, Vol.132 (5), p.862
2013
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Journal of molecular biology, 2008-01, Vol.375 (4), p.1052-1063
2008
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Infectious disorders drug targets, 2007-06, Vol.7 (2), p.127
2007
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EBioMedicine, 2021-10, Vol.72, p.103588-103588, Article 103588
- Koko, Mahmoud
- Krause, Roland
- Sander, Thomas
- Bobbili, Dheeraj Reddy
- Lerche, Holger
- Feng, Yen-Chen Anne
- Abbott, Liam E
- Tashman, Katherine
- Singh, Tarjinder
- Byrnes, Andrea
- Churchhouse, Claire
- Solomonson, Matthew
- Dhindsa, Ryan S
- Cavalleri, Gianpiero L
- Weckhuysen, Sarah
- Kamalakaran, Sitharthan
- Sisodiya, Sanjay M
- Cossette, Patrick
- Cotsapas, Chris
- Dlugos, Dennis J
- Regan, Brigid M
- Bellows, Susannah T
- Leu, Costin
- Weckhuysen, Dorien
- Stamberger, Hannah
- Andrade, Danielle M
- Sadoway, Tara R
- Mo, Kelly
- Papacostas, Savvas S
- Laššuthová, Petra
- Knake, Susanne
- Kunz, Wolfram S
- Bauer, Jürgen
- Muhle, Hiltrud
- vanBaalen, Andreas
- vonSpiczak, Sarah
- Korczyn, Amos D
- Häusler, Martin
- Lemke, Johannes R
- Weber, Yvonne G
- Wolking, Stefan
- Becker, Felicitas
- Schubert-Bast, Susanne
- Borggräfe, Ingo
- Mayer, Thomas
- Brockmann, Knut
- Madeleyn, Rene
- Linnankivi, Tarja
- Lehesjoki, Anna-Elina
- Rees, Mark I
- Chung, Seo-Kyung
- Powell, Robert
- Sills, Graeme J
- Baum, Larry W
- Cherny, Stacey S
- Delanty, Norman
- El-Naggar, Hany
- Zara, Federico
- Madia, Francesca
- Tinuper, Paolo
- Stipa, Carlotta
- Labate, Angelo
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- Vetro, Annalisa
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- Doccini, Viola
- Suzuki, Toshimitsu
- Arslan, Mutluay
- Kara, Bulent
- Bebek, Nerses
- Uğur-İşeri, Sibel
- Baykan, Betül
- Haryanyan, Garen
- Özkara, Çiğdem
- Shiedley, Beth R
- Ferraro, Thomas N
- Privitera, Michael
- Schachter, Steven
- Devinsky, Orrin
- Hegde, Manu
- Khankhanian, Pouya
- Helbig, Katherine L
- Spalletta, Gianfranco
- McQuillin, Andrew
- Blackwood, Douglas
- Palotie, Aarno
- Bromet, Evelyn J
- Achtyes, Eric D
- Azevedo, Maria Helena
- Medeiros, Helena
- Macciardi, Fabio
- Rapaport, Mark H
- Knowles, James A
- Cohort, Genomic Psychiatry
- Fanous, Ayman H
- Gupta, Namrata
- Daly, Mark J
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- Goldstein, David B
- Neale, Benjamin M
2021
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Hydrological processes, 2004-12, Vol.18 (18), p.3667-3679
2004
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