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1Academic Journal
المؤلفون: López-Rivera, J.A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Pérez-Palma, E., Hamer, H., Brandner, S., Rössler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmüller, J., Niestroj, L.M., Ferguson, L., Busch, R.M., Nürnberg, P., Najm, I., Blümcke, I., Lal, D.
مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf
Relation: http://edoc.mdc-berlin.de/22179/1/22179oa.pdf; http://edoc.mdc-berlin.de/22179/7/22179suppl.pdf; The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. López-Rivera, J.A. and Leu, C. and Macnee, M. and Khoury, J. and Hoffmann, L. and Coras, R. and Kobow, K. and Bhattarai, N. and Pérez-Palma, E. and Hamer, H. and Brandner, S. and Rössler, K. and Bien, C.G. and Kalbhenn, T. and Pieper, T. and Hartlieb, T. and Butler, E. and Genovese, G. and Becker, K. and Altmüller, J. and Niestroj, L.M. and Ferguson, L. and Busch, R.M. and Nürnberg, P. and Najm, I. and Blümcke, I. and Lal, D. Brain 146 (4): 1342-1356. April 2023
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2Academic Journal
المؤلفون: Leu, C., Stevelink, R., Smith, A.W., Goleva, S.B., Kanai, M., Ferguson, L., Busch, R.M.
مصطلحات موضوعية: Common variant risk, Epilepsy, Genetic generalized epilepsy, Genetics
Relation: Brain; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1093/brain/awz292; https://hdl.handle.net/20.500.12831/6740; 142; 11; 3473; 3481; 2-s2.0-85074309721; PubMed: 31608925
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3Academic Journal
المؤلفون: Patton, D.J., Busch, R.M., Yee, K.M., Kubu, C.S., Gonzalez-Martinez, J., Ford, P.J.
المساهمون: The Greenwall Foundation
المصدر: Epilepsy & Behavior ; volume 29, issue 1, page 90-95 ; ISSN 1525-5050
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4Academic Journal
المؤلفون: Sarkis, R.A., Busch, R.M., Floden, D., Chapin, J.S., Kalman Kenney, C., Jehi, L., Ruggieri, P., Najm, I.
المصدر: Epilepsy & Behavior ; volume 27, issue 2, page 326-329 ; ISSN 1525-5050
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5Academic Journal
المؤلفون: Prayson, B.E., Prayson, R.A., Kubu, C.S., Bingaman, W., Najm, I.M., Busch, R.M.
المصدر: Epilepsy & Behavior ; volume 28, issue 3, page 426-431 ; ISSN 1525-5050
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6Academic Journal
المؤلفون: Busch, R.M., Frazier, T., Chapin, J.S., Hamrahian, A.H., Diehl, B., Alexopoulos, A., Unnwongse, K., Naugle, R.I., Kubu, C.S., Tesar, G.E., Najm, I.M.
المصدر: Neurology ; volume 78, issue 14, page 1064-1068 ; ISSN 0028-3878 1526-632X
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7Academic Journal
المؤلفون: Kovac, S., Möddel, G., Reinholz, J., Alexopoulos, A.V., Syed, T., Koubeissi, M.Z., Schuele, S.U., Lineweaver, T., Busch, R.M., Loddenkemper, T.
المصدر: Neuropsychologia ; volume 48, issue 7, page 2221-2225 ; ISSN 0028-3932
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8Academic Journal
المؤلفون: Schinka, J.A.1,2 jschinka@hsc.usf.edu, Busch, R.M.1,3, Robichaux-Keene, N.1,4
المصدر: Molecular Psychiatry. Feb2004, Vol. 9 Issue 2, p197-202. 6p.
مصطلحات موضوعية: *SEROTONIN, *PERSONALITY, *ANXIETY, *MOLECULAR biology, *PSYCHIATRY, *BEHAVIORAL medicine
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9Academic Journal
المؤلفون: Stevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O. M., Afawi Z., Amadori E., Anderson A., Anderson J., Andrade D. M., Annesi G., Auce P., Avbersek A., Bahlo M., Baker M. D., Balagura G., Balestrini S., Barba C., Barboza K., Bartolomei F., Bast T., Baum L., Baumgartner T., Baykan B., Bebek N., Becker A. J., Becker F., Bennett C. A., Berghuis B., Berkovic S. F., Beydoun A., Bianchini C., Bisulli F., Blatt I., Bobbili D. R., Borggraefe I., Bosselmann C., Braatz V., Bradfield J. P., Brockmann K., Brody L. C., Buono R. J., Busch R. M., Caglayan H., Campbell E., Canafoglia L., Canavati C., Cascino G. D., Castellotti B., Catarino C. B., Cavalleri G. L., Cerrato F., Chassoux F., Cherny S. S., Cheung C. L., Chinthapalli K., Chou I. J., Chung S. K., Churchhouse C., Clark P. O., Cole A. J., Compston A., Coppola A., Cosico M., Cossette P., Craig J. J., Cusick C., Daly M. J., Davis L. K., de Haan G. J., Delanty N., Depondt C., Derambure P., Devinsky O., Di Vito L., Dlugos D. J., Doccini V., Doherty C. P., El-Naggar H., Elger C. E., Ellis C. A., Eriksson J. G., Faucon A., Feng Y. C. A., Ferguson L., Ferraro T. N., Ferri L., Feucht M., Fitzgerald M., Fonferko-Shadrach B., Fortunato F., Franceschetti S., Franke A., French J. A., Freri E., Gagliardi M., Gambardella A., Geller E. B., Giangregorio T., Gjerstad L.
المساهمون: Stevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O.M., Afawi Z., Amadori E., Anderson A., Anderson J., Andrade D.M., Annesi G., Auce P., Avbersek A., Bahlo M., Baker M.D., Balagura G., Balestrini S., Barba C., Barboza K., Bartolomei F., Bast T., Baum L., Baumgartner T., Baykan B., Bebek N., Becker A.J., Becker F., Bennett C.A., Berghuis B., Berkovic S.F., Beydoun A., Bianchini C., Bisulli F., Blatt I., Bobbili D.R., Borggraefe I., Bosselmann C., Braatz V., Bradfield J.P., Brockmann K., Brody L.C., Buono R.J., Busch R.M., Caglayan H., Campbell E., Canafoglia L., Canavati C., Cascino G.D., Castellotti B., Catarino C.B., Cavalleri G.L., Cerrato F., Chassoux F., Cherny S.S., Cheung C.L., Chinthapalli K., Chou I.J., Chung S.K., Churchhouse C., Clark P.O., Cole A.J., Compston A., Coppola A., Cosico M., Cossette P., Craig J.J., Cusick C., Daly M.J., Davis L.K., de Haan G.J., Delanty N., Depondt C., Derambure P., Devinsky O., Di Vito L., Dlugos D.J., Doccini V., Doherty C.P., El-Naggar H., Elger C.E., Ellis C.A., Eriksson J.G., Faucon A., Feng Y.C.A., Ferguson L., Ferraro T.N., Ferri L., Feucht M., Fitzgerald M., Fonferko-Shadrach B., Fortunato F., Franceschetti S., Franke A., French J.A., Freri E., Gagliardi M., Gambardella A., Geller E.B., Giangregorio T., Gjerstad L.
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/37653029; volume:55; issue:9; firstpage:1471; lastpage:1482; numberofpages:12; journal:NATURE GENETICS; https://hdl.handle.net/11585/954922; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169457451; https://www.nature.com/articles/s41588-023-01485-w
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10Academic Journal
المؤلفون: Blumcke I., Coras R., Busch R. M., Morita-Sherman M., Lal D., Prayson R., Cendes F., Lopes-Cendes I., Rogerio F., Almeida V. S., Rocha C. S., Sim N. S., Lee J. H., Kim S. H., Baulac S., Baldassari S., Adle-Biassette H., Walsh C. A., Bizzotto S., Doan R. N., Morillo K. S., Aronica E., Muhlebner A., Becker A., Cienfuegos J., Garbelli R., Giannini C., Honavar M., Jacques T. S., Thom M., Mahadevan A., Miyata H., Niehusmann P., Sarnat H. B., Soylemezoglu F., Najm I.
المساهمون: Blumcke I., Coras R., Busch R.M., Morita-Sherman M., Lal D., Prayson R., Cendes F., Lopes-Cendes I., Rogerio F., Almeida V.S., Rocha C.S., Sim N.S., Lee J.H., Kim S.H., Baulac S., Baldassari S., Adle-Biassette H., Walsh C.A., Bizzotto S., Doan R.N., Morillo K.S., Aronica E., Muhlebner A., Becker A., Cienfuegos J., Garbelli R., Giannini C., Honavar M., Jacques T.S., Thom M., Mahadevan A., Miyata H., Niehusmann P., Sarnat H.B., Soylemezoglu F., Najm I.
مصطلحات موضوعية: brain, classification, epilepsy, gene, neuropathology, seizure, Adolescent, Adult, Age of Onset, Antibody Diversity, Child, Preschool, Delphi Technique, Female, Genotype, Human, Immunohistochemistry, Infant, Magnetic Resonance Imaging, Male, Malformations of Cortical Development, Middle Aged, Mutation, Neurosurgical Procedure, Observer Variation, Phenotype, Young Adult
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/33949696; info:eu-repo/semantics/altIdentifier/wos/WOS:000647020600001; volume:62; issue:6; firstpage:1416; lastpage:1428; numberofpages:13; journal:EPILEPSIA; https://hdl.handle.net/11585/862462; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105053041
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11
المؤلفون: Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al- len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka- therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou- siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart- ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An- nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs- bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe, ChristophJ.Schankin, SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas- soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law- thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, the epilepsies: A whole-exome sequencing study of 29, 165 individuals, The American Journal of Human Genetics (2021), https://doi.org/10.1016/j.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An- tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie- tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa- betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor- enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At- sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To- paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun- dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih- Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac- queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis- waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein.
المساهمون: Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leu C., Leech S.L., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E.M., Kunz W.S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B.J., Schulze-Bonhage A., Borggrafe I., Schankin C.J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A.-E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Baker M.D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Delanty N., Doherty C.P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M.S., Salpietro V., Scala M., Mancardi M.M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L.G., King C., Caglayan S.H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Tsai M.-H., Ho C.-J., Lin C.-H., Lin K.-L., Chou I.-J., Poduri A., Shiedley B.R., Shain C., Noebels J.L., Goldman A., Busch R.M., Jehi L., Najm I.M., Ferguson L., Khoury J., Glauser T.A., Clark P.O., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Greenberg D.A., Ellis C.A., Goldberg E., Helbig K.L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S.F., Lerche H., Lowenstein D.H., Goldstein D.B., Epi25 Collaborative, Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: American journal of human genetics (2021). doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas-soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law-thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, The American Journal of Human Genetics (2021), https:%2F%2Fdoi.org%2F10.1016%2Fj.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An-tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie-tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa-betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor-enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At-sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To-paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun-dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac-queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis-waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, and David B. Goldstein./titolo:Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
Am J Hum Genet
The American journal of human genetics
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.965-982. ⟨10.1016/j.ajhg.2021.04.009⟩مصطلحات موضوعية: 0301 basic medicine, focal epilepsy, Whole Exome Sequencing, Cohort Studies, Epilepsy, 0302 clinical medicine, Genetic Marker, Missense mutation, Exome, whole-exome sequencing, generalized epilepsy, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Exome sequencing, seizures, Genetics, ClinVar, Phenotype, epileptic encephalopathy, Epi25, intolerance, Case-Control Studie, Human, Genetic Markers, seizure, Disease Association, Biology, Article, 03 medical and health sciences, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Generalized epilepsy, Gene, Louvain, [SCCO.NEUR]Cognitive science/Neuroscience, Correction, Genetic Variation, medicine.disease, epilepsy, Human genetics, 030104 developmental biology, Case-Control Studies, Human medicine, Cohort Studie, Genetic generalized epilepsy, 030217 neurology & neurosurgery
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