부산대학교 도서관

Lazarus, Gilbert, MD; Caddey, Benjamin, MSc; Dean, Anna, DVM MIPH PhD; Febrina, Florentina, BSc MD; Wangsaputra, Vincent Kharisma, MD MRes; Radiani, Shafira Permata, SKM; Xiong, Yindi, MSc; Conly, John M, Prof; Barkema, Herman W, Prof; Pezzoli, Lorenzo, DVM MSc PhD; van Kleef, Esther, PhD; Tosas Auguet, Olga, DVM PhD; Turner, Paul, Prof; Kothari, Kavita U, MSc; Bertagnolio, Silvia, MD PhD; Nobrega, Diego B, DVM MSc PhD; Hamers, Raph L, MD PhD; Prasetya, Adrian; Guzman, Alvaro J; Butters, Alyssa; de Lima, Andres; Dias, Angelica; Weyant, Benson; Liaqat, Chanda; Kamaliddin, Claire; Adesanwo, Esther; Satria, Febriyan; Krisandi, Grady; Brünger, Griffin; Akinniyi, Hafeez; Maharani, Indira L; Phowira, Jason; Sun, Jiajun; Yang, Jingyue; Rattner, Jodi I; Takahashi, Julia; Ngadimin, Kresanti D; Batalha, Laís; Covington, Lindsay; Radu, Luiza; Jokar, Mohammad; Aurelie, Nadine; Wisnu, Nayla KP; Auguet, Olga T; Fasiku, Oluwatobi; Goddard, Quinn; Siagian, Rejoel M; Ruby, Rivaldi; Sinto, Robert; Radiani, Shafira P; Rezaee, Shiva; Fisher, Sibina; Tazerji, Sina S; Cong, Stefanny; Li, Tianyu; Dirjayanto, Valerie J; Wangsaputra, Vincent K; Shaukat, Waseem; Tong, Xiaofang

The Lancet Microbe. 7(2)

Arthur Stefanski; Eduardo Pérez-Palma; Tobias Brünger; Ludovica Montanucci; Cornelius Gati; Chiara Klöckner; Katrine M Johannesen; Kimberly Goodspeed; Marie Macnee; Alexander T Deng; Ángel Aledo-Serrano; Artem Borovikov; Maina Kava; Arjan M Bouman; M J Hajianpour; Deb K Pal; Marc Engelen; Eveline E O Hagebeuk; Marwan Shinawi; Alexis R Heidlebaugh; Kathryn Oetjens; Trevor L Hoffman; Pasquale Striano; Amanda S Freed; Line Futtrup; Thomas Balslev; Anna Abulí; Leslie Danvoye; Damien Lederer; Tugce Balci; Maryam Nabavi Nouri; Elizabeth Butler; Sarah Drewes; Kalene van Engelen; Katherine B Howell; Jean Khoury; Patrick May; Marena Trinidad; Steven Froelich; Johannes R Lemke; Jacob Tiller; Amber N Freed; Jing-Qiong Kang; Arthur Wuster; Rikke S Møller; Dennis Lal

Brain
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Stefanski, A, Pérez-Palma, E, Brünger, T, Montanucci, L, Gati, C, Klöckner, C, Johannesen, K M, Goodspeed, K, Macnee, M, Deng, A T, Aledo-Serrano, Á, Borovikov, A, Kava, M, Bouman, A M, Hajianpour, M J, Pal, D K, Engelen, M, Hagebeuk, E E O, Shinawi, M, Heidlebaugh, A R, Oetjens, K, Hoffman, T L, Striano, P, Freed, A S, Futtrup, L, Balslev, T, Abulí, A, Danvoye, L, Lederer, D, Balci, T, Nouri, M N, Butler, E, Drewes, S, van Engelen, K, Howell, K B, Khoury, J, May, P, Trinidad, M, Froelich, S, Lemke, J R, Tiller, J, Freed, A N, Kang, J Q, Wuster, A, Møller, R S & Lal, D 2023, 'SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis', Brain, vol. 146, no. 12, pp. 5198-5208. https://doi.org/10.1093/brain/awad292
Brain, vol 146, iss 12

Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L.; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H.; Talkowski, Michael; Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Goldstein, David B.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leech, Stephanie L.; Leu, Costin; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Depondti, Chantal; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, André; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Yiolanda, Christou; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva; Kunz, Wolfram S.; Zsurka, Gábor; Surges, Rainer; Baumgartner, Tobias H.; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggräfe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; Rees, Mark I.; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert H. W.; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joe; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barišić, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Lino, Nobili; Amadori, Elisa; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiry-Zgheib, Nathalie; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapıcı, Zuhal; Topaloglu, Pınar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben I.; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Newton, Charles R. J. C.; Kariuki, Symon M.; Wagner, Ryan G.; Owusu-Agyei, Seth; Cole, Andrew J.; McGraw, Christopher M.; Siena, S. Anthony; Davis, Lea; Hucks, Donald; Faucon, Annika; Wu, David; Abou-Khalil, Bassel W.; Haas, Kevin; Taneja, Randip S.; null, null

Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature communications
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), p. 4392. Springer Nature 10.1038/s41467-023-39539-6
Nature Communications, vol 14, iss 1
Nature Communications 14, 4392 (2023). doi:10.1038/s41467-023-39539-6

Brünger T; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Ivaniuk A; Department of Neurology, Mayo Clinic in Florida, Jacksonville, Fl, 32224, USA.; Pérez-Palma E; Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Santiago, Chile.; Montanucci L; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Cohen S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Smith L; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Nothnagel M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-Sur-Alzette, Luxembourg.; Lal D; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany. dennis.lal@uth.tmc.edu.; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA. dennis.lal@uth.tmc.edu.; Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, 75 Ames Street, Cambridge, MA, 02142, USA. dennis.lal@uth.tmc.edu.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44106, USA. dennis.lal@uth.tmc.edu.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX, USA. dennis.lal@uth.tmc.edu.

Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Perry, M.S.; Scheffer, I.E.; Sullivan, J.; Brunklaus, A.; Boronat, Susana; Wheless, J.W.; Laux, L.; Patel, A.D.; Roberts, C.M.; Dlugos, D.; Holder, D.; Knupp, K.G.; Lallas, M.; Phillips, S.; Segal, E.; Smeyers, P.; Lal, D.; Wirrell, E.; Zuberi, Sameer M; Brünger, T.; Wojnaroski, M.; Maru, B.; O'Donnell, P.; Morton, M.; James, Emma S.; Vila, M.C.; Huang, N.; Gofshteyn, J.S.; Rico, S.; Universitat Autònoma de Barcelona

Montanucci, L; Lewis-Smith, D; Collins, RL; Niestroj, LM; Parthasarathy, S; Xian, J; Ganesan, S; Macnee, M; Brünger, T; Thomas, RH; Talkowski, M; Motelow, JE; Povysil, G; Dhindsa, RS; Stanley, KE; Allen, AS; Goldstein, DB; Feng, YCA; Howrigan, DP; Abbott, LE; Tashman, K; Cerrato, F; Cusick, C; Singh, T; Heyne, H; Byrnes, AE; Churchhouse, C; Watts, N; Solomonson, M; Lal, D; Gupta, N; Neale, BM; Berkovic, SF; Lerche, H; Lowenstein, DH; Cavalleri, GL; Cossette, P; Cotsapas, C; De Jonghe, P; Dixon-Salazar, T; Guerrini, R; Hakonarson, H; Heinzen, EL; Helbig, I; Kwan, P; Marson, AG; Petrovski, S; Kamalakaran, S; Sisodiya, SM; Stewart, R; Weckhuysen, S; Depondt, C; Dlugos, DJ; Scheffer, IE; Striano, P; Freyer, C; Krause, R; May, P; McKenna, K; Regan, BM; Bennett, CA; Leech, SL; Leu, C; O’Brien, TJ; Todaro, M; Stamberger, H; Depondti, C; Andrade, DM; Ali, QZ; Sadoway, TR; Krestel, H; Schaller, A; Papacostas, SS; Kousiappa, I; Tanteles, GA; Yiolanda, C; Šterbová, K; Vlcková, M; Sedlácková, L; Laššuthová, P; Klein, KM; Rosenow, F; Reif, PS; Knake, S; Neubauer, BA; Zimprich, F; Feucht, M; Reinthaler, E; Kunz, WS; Zsurka, G; Surges, R; Baumgartner, TH; Von Wrede, R; Pendziwiat, M; Muhle, H; Rademacher, A; Van Baalen, A; Von Spiczak, S

Hsu C; Ivaniuk A; Jimenez-Gomez A; Brünger T; Boßelmann CM; Perry MS; Phan C; Arenivas A; Oyler HO; Ludwig NN; Leu C; Lal D

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Vasilevsky N; Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.; Gehrke S; The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.; Mullen K; The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.; Barua S; Department of Pathology, Anatomy & Laboratory Medicine, West Virginia University, Health Sciences Campus, 763 Chestnut Ridge Rd. Morgantown, WV 26505, United States.; Braun I; Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.; Brünger T; The University of Texas Health Science Center at Houston, 7000 Fannin, Suite 1706. Houston, Texas 77030, United States.; Coughlin C 2nd; University of Colorado Anschutz, 13001 E 17th Pl, Aurora, CO 80045, United States.; Ivaniuk A; Mayo Clinic Florida, 4500 San Pablo Road Jacksonville, FL 32224, United States.; Korn D; The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.; Lal D; The University of Texas Health Science Center at Houston, 7000 Fannin, Suite 1706. Houston, Texas 77030, United States.; Marsh S; Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.; O'Loughlin E; CURE Epilepsy, 420 N. Wabash Avenue, Suite 650. Chicago, IL 60611, United States.; Olson D; Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.; Shwetar Y; The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.; Sofocleous C; National and Kapodistrian University of Athens School of Medicine, 75 Mikras Asias Street, Goudi, 11527 Athens, Greece.; Vogel-Farley V; Rare Epilepsy Network, 12042 Cedar Creek Rd, Cedarburg, WI 53012, United States.; Grabenstatter H; Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.; Haendel M; The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.; Mungall C; Genomics, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, United States.; Toro S; The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.

Publisher: Oxford Journals Country of Publication: England NLM ID: 101517697 Publication Model: Print Cited Medium: Internet ISSN: 1758-0463 (Electronic) Linking ISSN: 17580463 NLM ISO Abbreviation: Database (Oxford) Subsets: MEDLINE

Altenborg, A.; Klimas, R.; Brünger, J.; Huckemann, S.; Gasz, Z.; Fisse, A.L.; Grüter, T.; Eitner, L.; Greiner, T.; Maier, C.; Krumova, E.; Vorgerd, M.; Gold, R.; Pitarokoili, K.; Sturm, D.; Motte, J.

Clinical Neurophysiology. 159:e38-e38

Schäfer, E.; Hieke, A.; Schröder, M.; Klimas, R.; Brünger, J.; Huckemann, S.; Grüter, T.; Sgodzai, M.; Schneider-Gold, C.; Gold, R.; Pitarokoili, K.; Nguyen, H.P.; Motte, J.; Arning, L.; Fisse, A.L.

Clinical Neurophysiology. 159:e12-e12

Boßelmann CM; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Leu C; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Brünger T; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Cologne Center for Genomics (CCG), University of Cologne, Cologne, DE, Germany.; Hoffmann L; Department of Neuropathology, Partner of the European Reference Network (ERN) EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Baldassari S; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, F-75013, Paris, France.; Chipaux M; Department of Pediatric Neurosurgery, Rothschild Foundation Hospital, 75019, Paris, France.; Coras R; Department of Neuropathology, Partner of the European Reference Network (ERN) EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Kobow K; Department of Neuropathology, Partner of the European Reference Network (ERN) EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Hamer H; Epilepsy Center, EpiCARE Partner, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Delev D; Department of Neurosurgery, EpiCARE Partner, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Rössler K; Department of Neurosurgery, EpiCARE Partner, Medical University of Vienna, Vienna General Hospital, Vienna, Austria.; Bien CG; Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld, Germany.; Kalbhenn T; Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld, Germany.; Department of Neurosurgery (Evangelisches Klinikum Bethel), Medical School, Bielefeld University, Bielefeld, Germany.; Pieper T; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen-Clinic, Vogtareuth, Rosenheim, Germany.; Hartlieb T; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen-Clinic, Vogtareuth, Rosenheim, Germany.; Paracelsus Medical University, Salzburg, Austria.; Becker K; Cologne Center for Genomics (CCG), University of Cologne, Cologne, DE, Germany.; Ferguson L; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Busch RM; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Baulac S; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, F-75013, Paris, France.; Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Cologne, DE, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Najm I; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Blümcke I; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Department of Neuropathology, Partner of the European Reference Network (ERN) EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Lal D; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA. dennis.lal@uth.tmc.edu.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA. dennis.lal@uth.tmc.edu.; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA. dennis.lal@uth.tmc.edu.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX, USA. dennis.lal@uth.tmc.edu.; Cologne Center for Genomics (CCG), University of Cologne, Cologne, DE, Germany. dennis.lal@uth.tmc.edu.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T, Cambridge, MA, USA. dennis.lal@uth.tmc.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Montanucci L; Department of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, 1133 John Freeman Blvd, Houston, TX 77030, United States.; Brünger T; Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Weyertal 115b, Cologne 50937, Germany.; Bhattarai N; Epilepsy Center, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44106, United States.; Boßelmann CM; Epilepsy Center, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44106, United States.; Kim S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Allen JP; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Zhang J; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Klöckner C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Philipp-Rosenthal-street 55, Leipzig 04103, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Philipp-Rosenthal-street 55, Leipzig 04103, Germany.; Fariselli P; Department of Medical Sciences, University of Torino, Via Santena 19,Torino, 10123, Italy.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 7 Av. des Hauts-Fourneaux, Esch-sur-Alzette, 4362, Luxembourg.; Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Philipp-Rosenthal-street 55, Leipzig 04103, Germany.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, United States.; Lal D; Department of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, 1133 John Freeman Blvd, Houston, TX 77030, United States.; Epilepsy Center, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44106, United States.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (M.I.T.) and Harvard, 415 Main St, Cambridge, MA 02142, United States.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T, 415 Main St., Cambridge, MA 02142, United States.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Montanucci L; Department of Neurology, McGovern Medical School at UTHealth, Houston, Texas, USA.; Center for Neurogenetics, UTHealth Houston, Houston, Texas, USA.; Brünger T; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Boßelmann CM; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Ivaniuk A; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Pérez-Palma E; Universidad del Desarrollo, Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile.; Lhatoo S; Department of Neurology, McGovern Medical School at UTHealth, Houston, Texas, USA.; Leu C; Department of Neurology, McGovern Medical School at UTHealth, Houston, Texas, USA.; Center for Neurogenetics, UTHealth Houston, Houston, Texas, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Lal D; Department of Neurology, McGovern Medical School at UTHealth, Houston, Texas, USA.; Center for Neurogenetics, UTHealth Houston, Houston, Texas, USA.; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Huckemann, S.; Müller, K.; Averdunk, P.; Kühn, E.; Hilker, L.; Kools, S.; Scholz, L.; Bulut, Y.; Brünger, J.; Grüter, T.; Fisse, A.L.; Motte, J.; Yoon, M.S.; Gold, R.; Schneider-Gold, C.; Tönges, L.; Pitarokoili, K.

Clinical Neurophysiology. 132(8):e31-e32

Adams, Paul D.; Pannu, Navraj S.; Read, Randy J.; Brünger, Axel T.

Proceedings of the National Academy of Sciences of the United States of America, 1997 May . 94(10), 5018-5023.

Burling, F. Temple; Weis, William I.; Flaherty, Kevin M.; Brünger, Axel T.

Science, 1996 Jan 01. 271(5245), 72-77.

Montanucci L; Department of Neurology, McGovern Medical School at UTHealth Houston, Houston, TX 77030, USA.; Center for Neurogenetics, UTHealth Houston, Houston, TX 77030, USA.; Brünger T; Cologne Center for Genomics (CCG), University of Cologne, Cologne 50937, Germany.; Lal D; Department of Neurology, McGovern Medical School at UTHealth Houston, Houston, TX 77030, USA.; Center for Neurogenetics, UTHealth Houston, Houston, TX 77030, USA.; Cologne Center for Genomics (CCG), University of Cologne, Cologne 50937, Germany.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE; PubMed not MEDLINE

Perry MS; Cook Children's Medical Center, Fort Worth, Texas, USA.; Scheffer IE; University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Sullivan J; University of California, San Francisco, San Francisco, California, USA.; Brunklaus A; School of Health & Wellbeing, University of Glasgow, Glasgow, UK.; Boronat S; Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Wheless JW; Le Bonheur Children's Hospital, Memphis, Tennessee, USA.; Laux L; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Patel AD; Nationwide Children's Hospital, Columbus, Ohio, USA.; Roberts CM; Doernbecher Children's Hospital, Portland, Oregon, USA.; Dlugos D; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Holder D; Cedars-Sinai Medical Center, Los Angeles, California, USA.; Knupp KG; Children's Hospital Colorado, Aurora, Colorado, USA.; Lallas M; Nicklaus Children's Hospital, Miami, Florida, USA.; Phillips S; Multicare Health System, Tacoma, Washington, USA.; Segal E; Northeast Regional Epilepsy Group & Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, New Jersey, USA.; Smeyers P; Hospital Universitari i Politècnic la Fe, Valencia, Spain.; Lal D; UTHealth Houston, Houston, Texas, USA.; Wirrell E; Mayo Clinic, Rochester, Minnesota, USA.; Zuberi S; School of Health & Wellbeing, University of Glasgow, Glasgow, UK.; Brünger T; UTHealth Houston, Houston, Texas, USA.; Wojnaroski M; Nationwide Children's Hospital, Columbus, Ohio, USA.; Maru B; SSI Strategy, London, UK.; O'Donnell P; Encoded Therapeutics, South San Francisco, California, USA.; Morton M; Encoded Therapeutics, South San Francisco, California, USA.; James E; Encoded Therapeutics, South San Francisco, California, USA.; Vila MC; Encoded Therapeutics, South San Francisco, California, USA.; Huang N; Encoded Therapeutics, South San Francisco, California, USA.; Gofshteyn JS; Encoded Therapeutics, South San Francisco, California, USA.; Rico S; Encoded Therapeutics, South San Francisco, California, USA.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Kannan A; University of Arkansas for Medical Sciences School of Medicine, Little Rock, AR, USA.; Thomason A; Audiology/Speech Pathology Department, Arkansas Children's Hospital, Little Rock, AR, USA.; Nutt B; Audiology/Speech Pathology Department, Arkansas Children's Hospital, Little Rock, AR, USA.; Kumar N; Division of Child and Adolescent Psychiatry, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Simmons K; Department of Pediatric and Special Needs Dentistry, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Hiegert A; Department of Pediatric and Special Needs Dentistry, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Hartzell L; Department of Otolaryngology, Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Johnson A; Department of Otolaryngology, Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Prater T; Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, AR, USA.; Pérez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile.; Brünger T; Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany.; Stefanski A; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, USA.; Lal D; Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Caffrey AR; Health Outcomes, College of Pharmacy, University of Rhode Island, Kingston, RI, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Grüter, T.; Fisse, A.L.; Motte, J.; Köse, N.; Bulut, Y.; Mork, H.; Brünger, J.; Athanasopoulos, D.; Sgodzai, M.; Otto, S.; Schneider-Gold, C.; Gold, R.; Pitarokoili, K.

Clinical Neurophysiology. 131(4):e226-e226