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PIPPUCCI, TOMMASO

PIPPUCCI, TOMMASO  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Collaboratori  

Mostra records
Risultati 1 - 20 di 82 (tempo di esecuzione: 0.051 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Gr...ippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina 2024-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista 420 COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.pdf; 41431_2024_1615_MOESM3_ESM.docx; 41431_2024_1615_MOESM2_ESM.docx
Long read sequencing on its way to the routine diagnostics of genetic diseases Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Mag...ini, Pamela 2024-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista fgene-15-1374860.pdf
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children Fetta, Anna; Toni, Francesco; Pettenuzzo, Ilaria; Ricci, Emilia; Rocca, Alessandro; Gambi, Cateri...na; Soliani, Luca; Di Pisa, Veronica; Martini, Silvia; Sperti, Giacomo; Cagnazzo, Valeria; Accorsi, Patrizia; Bartolini, Emanuele; Battaglia, Domenica; Bernardo, Pia; Canevini, Maria Paola; Ferrari, Anna Rita; Giordano, Lucio; Locatelli, Chiara; Mancardi, Margherita; Orsini, Alessandro; Pippucci, Tommaso; Pruna, Dario; Rosati, Anna; Suppiej, Agnese; Tagliani, Sara; Vaisfeld, Alessandro; Vignoli, Aglaia; Izumi, Kosuke; Krantz, Ian; Cordelli, Duccio Maria 2024-01-01 ORPHANET JOURNAL OF RARE DISEASES - 1.01 Articolo in rivista 13023_2024_Article_3065.pdf
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy Dimartino P.; Zadorozhna M.; Yumiceba V.; Basile A.; Cani I.; Melo U.S.; Henck J.; Breur M.; Tono...n C.; Lodi R.; Brusco A.; Pippucci T.; Koufi F.D.; Boschetti E.; Ramazzotti G.; Manzoli L.; Ratti S.; Pinto E Vairo F.; Delatycki M.B.; Vaula G.; Cortelli P.; Bugiani M.; Spielmann M.; Giorgio E. 2024-01-01 ANNALS OF NEUROLOGY - 1.01 Articolo in rivista Annals of Neurology - 2024 - Dimartino - Structural Variants at the LMNB1 Locus Deciphering Pathomechanisms in Autosomal-compressed.pdf; ana27038-sup-0003-tables.docx; ana27038-sup-0002-figures.pdf; ana27038-sup-0001-supinfo.docx
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nar...di, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso 2023-01-01 HAEMATOLOGICA - 1.01 Articolo in rivista 10900-Article Text-79827-2-10-20230629.pdf; 10900.zip
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals Montanucci L.; Lewis-Smith D.; Collins R.L.; Niestroj L.-M.; Parthasarathy S.; Xian J.; Ganesan S....; Macnee M.; Brunger T.; Thomas R.H.; Talkowski M.; Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Goldstein D.B.; 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.; Berkovic S.F.; Lerche H.; Lowenstein D.H.; 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.; Leech S.L.; Leu C.; Lewis-Smith D.; O'Brien T.J.; Todaro M.; Stamberger H.; Depondti C.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Yiolanda C.; 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.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.H.; von Wrede R.; Helbig I.; 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.; Kurlemann G.; 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.H.W.; 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.; Kwan P.; 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.; Lino N.; 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.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; 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.; Lal D.; Ferguson L.; Khoury J.; Glauser T.A.; Clark P.O.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Dlugos D.J.; 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.; Newton C.R.J.C.; Kariuki S.M.; Wagner R.G.; Owusu-Agyei S.; Cole A.J.; McGraw C.M.; Siena S.A.; Davis L.; Hucks D.; Faucon A.; Wu D.; Abou-Khalil B.W.; Haas K.; Taneja R.S.; Helbig I.; Leu C.; Lal D.; Epi25 Collaborative 2023-01-01 NATURE COMMUNICATIONS - 1.01 Articolo in rivista s41467-023-39539-6.pdf; 39539.zip
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou-Khalil, Oluyomi M. Adesoji, Zaid Afawi, ...Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, Grazia Annesi, Pauls Auce, Andreja Avbersek, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Carmen Barba, Karen Barboza,Fabrice Bartolomei, Thomas Bast, Larry Baum, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Albert J. Becker33, Felicitas Becker34, Caitlin A. Bennett, Bianca Berghuis36, Samuel F. Berkovic ✉, Ahmad Beydoun37,
Claudia Bianchini23, Francesca Bisulli, Ilan Blatt8,40, Dheeraj R. Bobbili41, Ingo Borggraefe42,43, Christian Bosselmann44,
Vera Braatz17,22, Jonathan P. Bradfield45,46, Knut Brockmann47, Lawrence C. Brody48, Russell J. Buono45,49,50, Robyn M. Busch51,52,53,
Hande Caglayan54, Ellen Campbell55, Laura Canafoglia56, Christina Canavati57, Gregory D. Cascino58, Barbara Castellotti59,
Claudia B. Catarino17, Gianpiero L. Cavalleri2,3 ✉, Felecia Cerrato60, Francine Chassoux61, Stacey S. Cherny28,62,
Ching-Lung Cheung63, Krishna Chinthapalli17, I-Jun Chou64, Seo-Kyung Chung65,66, Claire Churchhouse4,5,60, Peggy O. Clark67,
Andrew J. Cole68, Alastair Compston69, Antonietta Coppola70, Mahgenn Cosico71,72, Patrick Cossette73, John J. Craig74,
Caroline Cusick60, Mark J. Daly4,5,60,75, Lea K. Davis76,77,78,79, Gerrit-Jan de Haan80, Norman Delanty2,3,81, Chantal Depondt82,
Philippe Derambure83, Orrin Devinsky84, Lidia Di Vito38, Dennis J. Dlugos71, Viola Doccini23, Colin P. Doherty3,85,
Hany El-Naggar2,3,81, Christian E. Elger30, Colin A. Ellis86, Johan G. Eriksson87, Annika Faucon88, Yen-Chen A. Feng4,5,60,89,90,
Lisa Ferguson52, Thomas N. Ferraro49,91, Lorenzo Ferri, Martha Feucht92, Mark Fitzgerald71,72,86, Beata Fonferko-Shadrach21,
Francesco Fortunato93, Silvana Franceschetti94, Andre Franke95, Jacqueline A. French96, Elena Freri97, Monica Gagliardi98,
Antonio Gambardella93, Eric B. Geller99, Tania Giangregorio38, Leif Gjerstad100, Tracy Glauser67, Ethan Goldberg71,72,
Alicia Goldman101, Tiziana Granata97, David A. Greenberg102, Renzo Guerrini23, Namrata Gupta5, Kevin F. Haas6,
Hakon Hakonarson45,103, Kerstin Hallmann30,104, Emadeldin Hassanin41,105, Manu Hegde106, Erin L. Heinzen107,108,
Ingo Helbig71,72,86,95,109,110, Christian Hengsbach44, Henrike O. Heyne5,75,111,112, Shinichi Hirose113, Edouard Hirsch114,
Helle Hjalgrim115,116, Daniel P. Howrigan4,5,60, Donald Hucks76,79, Po-Cheng Hung64, Michele Iacomino10, Lukas L. Imbach117,
Yushi Inoue118, Atsushi Ishii119, Jennifer Jamnadas-Khoda17,120, Lara Jehi52,53, Michael R. Johnson121, Reetta Kälviäinen122,123,
Yoichiro Kamatani124, Moien Kanaan57, Masahiro Kanai125,126, Anne-Mari Kantanen122, Bülent Kara127, Symon M. Kariuki128,129,130,
Dalia Kasperavičiūte17, Dorothee Kasteleijn-Nolst Trenite1, Mitsuhiro Kato131, Josua Kegele44, Yeşim Kesim31,
Nathalie Khoueiry-Zgheib132, Chontelle King133, Heidi E. Kirsch106, Karl M. Klein134,135,136,137, Gerhard Kluger138,139,
Susanne Knake134,137, Robert C. Knowlton106, Bobby P. C. Koeleman1 ✉, Amos D. Korczyn8, Andreas Koupparis140,
Ioanna Kousiappa140, Roland Krause41, Martin Krenn141, Heinz Krestel135,137,142,143, Ilona Krey144, Wolfram S. Kunz30,145,
Mitja I. Kurki4,5,60,75, Gerhard Kurlemann146, Ruben Kuzniecky147, Patrick Kwan11,12,148, Angelo Labate149, Austin Lacey2,3,81,
Dennis Lal51,52,60, Zied Landoulsi41, Yu-Lung Lau150, Stephen Lauxmann44, Stephanie L. Leech35, Anna-Elina Lehesjoki151,
Johannes R. Lemke144, Holger Lerche44, Gaetan Lesca152, Costin Leu17,51,60, Naomi Lewin71,72, David Lewis-Smith71,110,153,154,
Gloria H.-Y. Li63,155, Qingqin S. Li156, Laura Licchetta, Kuang-Lin Lin64, Dick Lindhout1,80, Tarja Linnankivi157,158,159,
Iscia Lopes-Cendes160, Daniel H. Lowenstein106, Colin H. T. Lui161, Francesca Madia10, Sigurdur Magnusson162,
Anthony G. Marson163, Patrick May41, Christopher M. McGraw68, Davide Mei23, James L. Mills164, Raffaella Minardi, Nasir Mirza163,
Rikke S. Møller115,116, Anne M. Molloy165, Martino Montomoli23, Barbara Mostacci, Lorenzo Muccioli, Hiltrud Muhle109,
Karen Müller-Schlüter166, Imad M. Najm52,53, Wassim Nasreddine37, Benjamin M. Neale4,5,60, Bernd Neubauer167,
Charles R. J. C. Newton128,129,130, Markus M. Nöthen168, Michael Nothnagel7,169, Peter Nürnberg7, Terence J. O’Brien11,12,
Yukinori Okada126,170, Elías Ólafsson171, Karen L. Oliver18,19,35, Çiğdem Özkara172, Aarno Palotie4,5,60,75, Faith Pangilinan48,
Savvas S. Papacostas140, Elena Parrini23, Carlos N. Pato173, Michele T. Pato173, Manuela Pendziwiat95,109, Slavé Petrovski11,174,
William O. Pickrell21,175, Rebecca Pinsky176, Tommaso Pippucci, Annapurna Poduri176, Federica Pondrelli, Rob H. W. Powell175,
Michael Privitera178, Annika Rademacher109, Rodney Radtke179, Francesca Ragona97, Sarah Rau44, Mark I. Rees66,180,
Brigid M. Regan35, Philipp S. Reif134,135,137, Sylvain Rhelms181,182, Antonella Riva9,10, Felix Rosenow134,135,137, Philippe Ryvlin183,
Anni Saarela122,123, Lynette G. Sadleir133, Josemir W. Sander17,22,80, Thomas Sander7,184, Marcello Scala9,10, Theresa Scattergood185,
Steven C. Schachter186, Christoph J. Schankin142,187, Ingrid E. Scheffer35,188, Bettina Schmitz184, Susanne Schoch33,
Susanne Schubert-Bast135,137, Andreas Schulze-Bonhage189, Paolo Scudieri9,10, Pak Sham28, Beth R. Sheidley176, Jerry J. Shih190,
Graeme J. Sills191, Sanjay M. Sisodiya17,22, Michael C. Smith192, Philip E. Smith193, Anja C. M. Sonsma1, Doug Speed194,195,
Michael R. Sperling196, Hreinn Stefansson162, Kári Stefansson162, Bernhard J. Steinhoff26,27, Ulrich Stephani109,
William C. Stewart197,198, Carlotta Stipa38, Pasquale Striano9,10, Hans Stroink199, Adam Strzelczyk134,135,137, Rainer Surges30,
Toshimitsu Suzuki200,201, K. Meng Tan11, R. S. Taneja6, George A. Tanteles140, Erik Taubøll100, Liu Lin Thio202, G. Neil Thomas203,
Rhys H. Thomas153,154, Oskari Timonen123, Paolo Tinuper, Marian Todaro11,12, Pınar Topaloğlu204, Rossana Tozzi205,
Meng-Han Tsai206, Birute Tumiene207,208, Dilsad Turkdogan209, Unnur Unnsteinsdóttir162, Algirdas Utkus208, Priya Vaidiswaran71,72,
Luc Valton210, Andreas van Baalen109, Annalisa Vetro23, Eileen P. G. Vining211, Frank Visscher212, Sophie von Brauchitsch135,137,
Randi von Wrede30, Ryan G. Wagner213, Yvonne G. Weber44,214, Sarah Weckhuysen215,216,217, Judith Weisenberg202, Michael Weller218,
Peter Widdess-Walsh2,3,81, Markus Wolff219, Stefan Wolking214, David Wu88, Kazuhiro Yamakawa200,201, Wanling Yang150,
Zuhal Yapıcı204, Emrah Yücesan220, Sara Zagaglia17,22, Felix Zahnert134, Federico Zara9,10, Wei Zhou4,5,60, Fritz Zimprich141,
Gábor Zsurka30,145 & Quratulain Zulfiqar Ali14 		2023-01-01 NATURE GENETICS - 1.01 Articolo in rivista -
Resources and tools for rare disease variant interpretation Licata L.; Via A.; Turina P.; Babbi G.; Benevenuta S.; Carta C.; Casadio R.; Cicconardi A.; Facch...iano A.; Fariselli P.; Giordano D.; Isidori F.; Marabotti A.; Martelli P.L.; Pascarella S.; Pinelli M.; Pippucci T.; Russo R.; Savojardo C.; Scafuri B.; Valeriani L.; Capriotti E. 2023-01-01 FRONTIERS IN MOLECULAR BIOSCIENCES - 1.01 Articolo in rivista fmolb-10-1169109.pdf; 1169.zip
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only Iovino E.; Scapoli L.; Palmieri A.; Sgarzani R.; Nouri N.; Pellati A.; Carinci F.; Seri M.; Pippu...cci T.; Martinelli M. 2023-01-01 BIOMOLECULES - 1.01 Articolo in rivista Iovino, Scapoli 2023 Ultra rare mutations in nsCPO.pdf; biomolecules-13-00236-s001.zip
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y....-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T. 2022-01-01 BRAIN - 1.01 Articolo in rivista awac082.pdf; awac082_supplementary_data.zip
Exploration of Tools for the Interpretation of Human Non-Coding Variants Tabarini, Nicole; Biagi, Elena; Uva, Paolo; Iovino, Emanuela; Pippucci, Tommaso; Seri, Marco; Cav...alli, Andrea; Ceccherini, Isabella; Rusmini, Marta; Viti, Federica 2022-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1.01 Articolo in rivista ijms-23-12977-v2.pdf
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, ...Bonora E. 2021-01-01 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS - 1.01 Articolo in rivista s10803-020-04551-y.pdf; 231308c7-61b5-43e5-befd-365842d292a9.pdf
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kriste...n J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima 2021-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Distinct gene-set burden patterns underlie common generalized and focal epilepsies Koko M.; Krause R.; Sander T.; Bobbili D.R.; Nothnagel M.; May P.; Lerche H.; Epi25 Collaborative...; Bisulli F.; Tinuper P.; Pippucci T. 2021-01-01 EBIOMEDICINE - 1.01 Articolo in rivista 1-s2.0-S2352396421003819-main.pdf; Supplemantary materials.zip
Epilepsy with auditory features: Contribution of known genes in 112 patients Bisulli F.; Rinaldi C.; Pippucci T.; Minardi R.; Baldassari S.; Zenesini C.; Mostacci B.; Fanella... M.; Avoni P.; Menghi V.; Caporali L.; Muccioli L.; Tinuper P.; Licchetta L. 2021-01-01 SEIZURE - 1.01 Articolo in rivista -
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? Guerrini, Renzo; Cavallin, Mara; Pippucci, Tommaso; Rosati, Anna; Bisulli, Francesca; Dimartino, ...Paola; Barba, Carmen; Garbelli, Rita; Buccoliero, Anna Maria; Tassi, Laura; Conti, Valerio 2021-01-01 NEUROLOGY. GENETICS - 1.01 Articolo in rivista e540.full.pdf
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations Stevelink R.; Luykx J.J.; Lin B.D.; Leu C.; Lal D.; Smith A.W.; Schijven D.; Carpay J.A.; Rademak...er K.; Rodrigues Baldez R.A.; Devinsky O.; Braun K.P.J.; Jansen F.E.; Smit D.J.A.; Koeleman B.P.C.; Bisulli F.; Epi25 Consortium; Tinuper P.; Pippucci T.; International League Against Epilepsy Consortium on Complex Epilepsies 2021-01-01 EPILEPSIA - 1.01 Articolo in rivista Epilepsia - 2021 - Stevelink - Shared genetic basis between genetic generalized epilepsy and background.pdf; EPI-62-1518-s001.docx
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Feng Y.-C.A.; Howrigan D.P.; Ab...bott 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. 2021-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level Iovino, Emanuela; Seri, Marco; Pippucci, Tommaso 2021-01-01 BIOINFORMATICS - 1.01 Articolo in rivista -
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L....; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F. 2020-01-01 MOLECULAR DIAGNOSIS & THERAPY - 1.01 Articolo in rivista -