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Marco Fichera
Researcher at University of Catania
Publications - 107
Citations - 7879
Marco Fichera is an academic researcher from University of Catania. The author has contributed to research in topics: Gene & Autism. The author has an hindex of 35, co-authored 99 publications receiving 7108 citations. Previous affiliations of Marco Fichera include Radboud University Nijmegen.
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Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier,Christelle Golzio,Bo Xiong,Holly A.F. Stessman,Bradley P. Coe,Osnat Penn,Kali Witherspoon,Jennifer Gerdts,Carl Baker,Anneke T. Vulto-van Silfhout,Janneke H M Schuurs-Hoeijmakers,Marco Fichera,Paolo Bosco,Serafino Buono,Antonino Alberti,Pinella Failla,Hilde Peeters,Jean Steyaert,Jean Steyaert,Lisenka E.L.M. Vissers,Ludmila Francescatto,Heather C Mefford,Jill A. Rosenfeld,Trygve E. Bakken,Brian J. O'Roak,Matthew R. Pawlus,Randall T. Moon,Randall T. Moon,Jay Shendure,David G. Amaral,Ed S. Lein,Julia Rankin,Corrado Romano,Bert B.A. de Vries,Nicholas Katsanis,Evan E. Eichler,Evan E. Eichler +36 more
TL;DR: It is indicated that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane McCarthy,Carl Baker,Heather C Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
Journal ArticleDOI
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe,Kali Witherspoon,Jill A. Rosenfeld,Bregje W.M. van Bon,Bregje W.M. van Bon,Anneke T. Vulto-van Silfhout,Paolo Bosco,Kathryn Friend,Carl Baker,Serafino Buono,Lisenka E.L.M. Vissers,Janneke H M Schuurs-Hoeijmakers,Alexander Hoischen,Rolph Pfundt,Nik Krumm,Gemma L. Carvill,Deana Li,David G. Amaral,Natasha Brown,Paul J. Lockhart,Ingrid E. Scheffer,Antonino Alberti,Marie Shaw,Rosa Pettinato,Raymond C. Tervo,Nicole de Leeuw,Margot R.F. Reijnders,Beth S. Torchia,Hilde Peeters,Elizabeth A. Thompson,Elizabeth A. Thompson,Brian J. O'Roak,Marco Fichera,Marco Fichera,Jayne Y. Hehir-Kwa,Jay Shendure,Heather C Mefford,Heather C Mefford,Eric Haan,Eric Haan,Jozef Gecz,Bert B.A. de Vries,Corrado Romano,Evan E. Eichler +43 more
TL;DR: An expanded CNV morbidity map was created from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs and an integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function.
Journal ArticleDOI
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Andrew J. Sharp,Heather C Mefford,Kelly Li,Carl Baker,Cindy Skinner,Roger E. Stevenson,Richard J. Schroer,Francesca Novara,Manuela De Gregori,Roberto Ciccone,Adam Broomer,Iris Casuga,Yu Wang,Chunlin Xiao,Catalin Barbacioru,Giorgio Gimelli,Bernardo Dalla Bernardina,Claudia Torniero,Roberto Giorda,Regina Regan,Victoria Murday,Sahar Mansour,Marco Fichera,Lucia Castiglia,Pinella Failla,Mario Ventura,Zhaoshi Jiang,Gregory M. Cooper,Samantha J. L. Knight,Corrado Romano,Orsetta Zuffardi,Caifu Chen,Charles E. Schwartz,Evan E. Eichler +33 more
TL;DR: A recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms is reported, with a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.