D
Davide Mei
Researcher at University of Florence
Publications - 112
Citations - 4477
Davide Mei is an academic researcher from University of Florence. The author has contributed to research in topics: Epilepsy & Dravet syndrome. The author has an hindex of 39, co-authored 98 publications receiving 3598 citations. Previous affiliations of Davide Mei include University of Alabama at Birmingham & Boston Children's Hospital.
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Journal ArticleDOI
A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls
Ida Cursio,Nadia Ronzano,M Asunis,Maria Sabina Dettori,Silvia Cossu,Stefania Murru,M Cau,Federica Incani,Davide Mei,Claudio Bianchini,Manuela Scioni,Dario Pruna +11 more
TL;DR: In this article , a complex family with two couples (two sisters who married two brothers) with consistent social and neuropsychiatric problems, originally from Sardinia, was described, and the epileptic history almost reflected the typical clinical course of a self-limited focal epilepsy of childhood.
Posted ContentDOI
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Daniel G. Calame,Tianyu Guo,Chen Wang,Lillian Garrett,Angad Jolly,Moez Dawood,Alina Kurolap,Noa Henig,Jawid M Fatih,Isabella Herman,Haowei Du,Tadahiro Mitani,Lore Becker,Birgit Rathkolb,Raffaele Gerlini,Claudia Seisenberger,Susan Marschall,Jill V. Hunter,Amanda Gerard,Alexis R Heidlebaugh,Thomas D. Challman,Rebecca C. Spillmann,Shalini N. Jhangiani,Zeynep Coban-Akdemir,Seema R. Lalani,Lingxiao Liu,Anya Revah-Politi,Alejandro Iglesias,Edwin Guzman,Evan H. Baugh,Nathalie Boddaert,Sophie Rondeau,Giulia Barcia,Queenie K.-G. Tan,Isabelle Thiffault,Tomi Pastinen,Kazim A. Sheikh,Suur Biliciler,Davide Mei,Federico Melani,Vandana Shashi,Yuval Yaron,Mary Q. Steele,Emma Wakeling,Elsebet Østergaard,Lusine Nazaryan-Petersen,Francisca Millan,Teresa Santiago-Sim,Julien Thevenon,Ange-Line Bruel,Christel Thauvin-Robinet,Denny Popp,Konrad Platzer,Pawel Gawlinski,Wojciech Wiszniewski,Dana Marafi,Davut Pehlivan,Jennifer E. Posey,Richard A. Gibbs,Valerie Gailus-Durner,Renzo Guerrini,Helmut Fuchs,Martin Hrabé de Angelis,Sabine M. Hölter,Hoi-Hung Cheung,Shen Gu,James R. Lupski +66 more
TL;DR: In this article , the authors used exome sequencing and family-based rare variant analysis to identify 20 individuals with de novo, ultra-rare, heterozygous missense or loss-of-function (LoF) DHX9 variant alleles.
Journal ArticleDOI
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Burcu Yaldiz,Erdi Kucuk,J. Hampstead,Tom Hofste,Rolph Pfundt,Jordi Corominas Galbany,Tuula Rinne,Helger G. Yntema,Alexander Hoischen,Marcel R. Nelen,Christian Gilissen,Olaf Riess,Tobias B. Haack,Holm Graessner,Birte Zurek,Kornelia Ellwanger,Stephan Ossowski,German Demidov,Marc Sturm,Julia M. Schulze-Hentrich,Rebecca Schüle,Jishu Xu,Christoph Kessler,Melanie Wayand,Matthis Synofzik,Carlo Wilke,Andreas Traschütz,Ludger Schöls,Holger Hengel,Holger Lerche,Josua Kegele,Peter Heutink,Han G. Brunner,Hans Scheffer,Nicoline Hoogerbrugge,Peter A C 't Hoen,Lisenka E.L.M. Vissers,Wouter Steyaert,Karolis Sablauskas,Richarda M. de Voer,Erik-Jan Kamsteeg,Bart van de Warrenburg,Nienke J H van Os,Iris B A W Te Paske,Erik Janssen,E. de Boer,Marloes Steehouwer,Tjitske Kleefstra,Anthony J. Brookes,Colin Veal,Spencer J. Gibson,Mehdi Mehtarizadeh,Umar Riaz,Greg Warren,Farid Yavari Dizjikan,Tom Shorter,Ana Töpf,Volker Straub,C. Marini Bettolo,J. Diaz Manera,Sophie Hambleton,Karin R. Engelhardt,Jill Clayton-Smith,Siddharth Banka,Elizabeth Alexander,Adam Jackson,Laurence Faivre,Christel Thauvin,Antonio Vitobello,Anne-Sophie Denommé-Pichon,Yannis Duffourd,Ange-Line Bruel,Christine Peyron,Aurore Pélissier,Sergi Beltran,Ivo Gut,Steve Laurie,D. Piscia,Leslie Matalonga,Anastasios Papakonstantinou,Gemma Bullich,Alberto Corvo,Marcos Fernandez-Callejo,Carles Hernandez,Daniel Picó,Ida Paramonov,Hanns Lochmüller,Gulcin Gumus,Virginie Bros-Facer,Ana Rath,Marc Hanauer,David Lagorce,Giovanni Stevanin,Alexandra Durr,Claire-Sophie Davoine,Lena Guillot-Noel,Anna Heinzmann,Giulia Coarelli,Gisèle Bonne,Teresinha Evangelista,Valérie Allamand,Isabelle Nelson,Rabah Ben Yaou,Corinne Metay,Bruno Eymard,Enzo Cohen,A Atalaia,Tanya Stojkovic,Milan Macek,Marek Turnovec,Dana Thomasova,Radka Pourová Kremliková,V. Franková,Marketa Havlovicova,Petra Liskova,Pavla Dolezalova,Helen Parkinson,Thomas Keane,Mallory A. Freeberg,Coline Thomas,Dylan Spalding,Peter N. Robinson,Daniel Danis,Glenn Robert,Alessia Costa,Christine Patch,Mike Hanna,Henry Houlden,Mary Reilly,Jana Vandrovcova,Stephanie Efthymiou,Hebatollah Morsy,E. Willet Cali,Francesca Magrinelli,Sanjay M. Sisodiya,Jonathan B. Rohrer,Francesco Muntoni,Irina Zaharieva,Anna Sarkozy,Vincent Timmerman,Jonathan Baets,Geert de Vries,Jonathan De Winter,Danique Beijer,Peter De Jonghe,Liedewei Van de Vondel,Willem De Ridder,Sarah Weckhuysen,Vincenzo Nigro,Margherita Mutarelli,Manuela Morleo,Michele Pinelli,Alessandra Varavallo,Sandro Banfi,Annalaura Torella,Francesco Musacchia,Giulio Piluso,Alessandra Ferlini,Rita Selvatici,Francesca Gualandi,Stefania Bigoni,Rachel Alexandra Rossi,Marcella Neri,Stefan Aretz,Isabel Spier,Anna K. Sommer,Sophia Peters,Carla Oliveira,J.G. Peláez,Ana Rita Matos,Celina Beatriz Teixeira São José,Marta Ferreira,Irene Gullo,Susana Fernandes,Luzia Garrido,Pedro Bravo Ferreira,Fátima Carneiro,Morris A. Swertz,Lennart Johansson,Joeri K. van der Velde,Gerben van der Vries,Pieter B. Neerincx,David Ruvolo,Kristin M. Abbott,D. Roelofs-Prins,Marielle E. van Gijn,Sebastian Köhler,Alison Metcalfe,Alain Verloes,Séverine Drunat,Delphine Héron,Cyril Mignot,Boris Keren,Jean-Madeleine de Sainte Agathe,Caroline Rooryck,Didier Lacombe,Aurélien Trimouille,Manuel Posada de la Paz,Eva Bermejo Sánchez,Estrella López Martín,Beatriz Martinez Delgado,F. J. A. G. de la Rosa,Andrea Ciolfi,C. Dallapiccola,Simone Pizzi,Francesca Clementina Radio,Marco Tartaglia,Alessandra Renieri,Simone Furini,Chiara Fallerini,Elisa Benetti,Peter Balicza,Márk Molnár,Aleš Maver,B. Matija Peterlin,Alexander Münchau,Katja Lohmann,Rebecca Herzog,Martje G. Pauly,Alfons Macaya,Ana Cazurro-Gutiérrez,Belén Pérez-Dueñas,Francina Munell,Clara Franco Jarava,Anna Marcé-Grau,Roger Colobran,Andrés Nascimento Osorio,Daniel Natera de Benito,Rachel Thompson,Kiran Polavarapu,Bodo Grimbacher,David Beeson,Judy Cossins,Peter Hackman,Mridul Johari,Marco Savarese,Bjarne Udd,Rita Horvath,Patrick F. Chinnery,T.E. Ratnaike,Fei Gao,Katherine Schon,G. Capella,Laura Valle,Elke Holinski-Feder,Andreas Laner,Verena Steinke-Lange,Evelin Schröck,Andreas Rump,A. Nazli Basak,Dimitri Hemelsoet,Bart Dermaut,Nika Schuermans,Bruce Poppe,Hannah Verdin,Davide Mei,Annalisa Vetro,Simona Balestrini,Renzo Guerrini,Kristl G. Claeys,Gijs W. E. Santen,Emilia K. Bijlsma,Mariëtte J.V. Hoffer,Claudia A. L. Ruivenkamp,Kaan Boztug,Matthias Haimel,Isabelle Maystadt,Isabell Cordts,Marcus Deschauer,Ioannis Zaganas,Evgenia Kokosali,Athanasios Evangeliou,Martha Spilioti,Elisabeth Kapaki,Mara Bourbouli,Pasquale Striano,Federico Zara,Antonella Riva,Michele Iacomino,Paolo Uva,Marcello Scala,Paolo Scudieri,Maria Roberta Cilio,Chantal Depondt,Damien Lederer,Yves Sznajer,Sarah Duerinckx,Sandrine Mary,Christel Depienne,Andreas Roos,Patrick May +290 more
TL;DR: In this paper , the authors compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques and concluded that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome Capture techniques.
Journal ArticleDOI
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Nicola Specchio,Marina Trivisano,Matteo Lenge,Alessandro Ferretti,Davide Mei,Elena Parrini,Antonio Napolitano,Camilla Rossi-Espagnet,Giacomo Talenti,Dan L. Longo,Jacopo Proietti,Francesca Ragona,Elena Freri,Roberta Solazzi,Tiziana Granata,Francesca Darra,Bernardo Dalla Bernardina,Federico Vigevano,Renzo Guerrini +18 more
TL;DR: The clinical phenotype of CDKL5 deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed as discussed by the authors , which is a limitation of our work.
Journal ArticleDOI
Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series
Chiara Caporalini,Mirko Scagnet,Laura Giunti,Valentina Cetica,Davide Mei,Valerio Conti,Selene Moscardi,L. L. Macconi,Filippo Giordano,Ludovico D'Incerti,Lorenzo Genitori,Renzo Guerrini,Anna Maria Buccoliero +12 more
TL;DR: In this paper , the authors identified the recurrent dinucleotide mutation in platelet derived growth factor receptor alpha (PDGFRA) gene, replacing a lysine residue with either leucine or isoleucine (p. LysK385Leu/Iso).