T
Tony Roscioli
Researcher at Boston Children's Hospital
Publications - 150
Citations - 5571
Tony Roscioli is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 33, co-authored 129 publications receiving 4376 citations. Previous affiliations of Tony Roscioli include Neuroscience Research Australia & Alexandra Hospital.
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Journal ArticleDOI
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Frank Rutsch,Nico Ruf,Sucheta M. Vaingankar,Mohammad R. Toliat,Anita Suk,Anita Suk,Wolfgang Höhne,Galen Schauer,Mandy Lehmann,Mandy Lehmann,Tony Roscioli,Dirk Schnabel,Jörg T. Epplen,A. S. Knisely,Andrea Superti-Furga,James McGill,Marco Filippone,Alan R. Sinaiko,Hillary Vallance,Bernd Hinrichs,Wendy E. Smith,Merry Ferre,Robert Terkeltaub,Peter Nürnberg,Peter Nürnberg +24 more
TL;DR: It is found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a cell surface enzyme that generates inorganic pyroph phosphate (PPi), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Peter Krawitz,Peter Krawitz,Michal R. Schweiger,Michal R. Schweiger,Christian Rödelsperger,Christian Rödelsperger,Carlo Marcelis,Uwe Kölsch,Christian Meisel,Friederike Stephani,Taroh Kinoshita,Yoshiko Murakami,Sebastian Bauer,Melanie Isau,Axel Fischer,Andreas Dahl,Martin Kerick,Jochen Hecht,Jochen Hecht,Sebastian Köhler,Marten Jäger,Johannes Grünhagen,Birgit Jonske de Condor,Sandra C. Doelken,Han G. Brunner,Peter Meinecke,Eberhard Passarge,Miles D. Thompson,David E. C. Cole,Denise Horn,Tony Roscioli,Stefan Mundlos,Stefan Mundlos,Peter N. Robinson,Peter N. Robinson +34 more
TL;DR: Per whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in H PMR.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Rivière,Bregje W.M. van Bon,Alexander Hoischen,S.S. Kholmanskikh,Brian J. O'Roak,Christian Gilissen,Sabine Gijsen,Christopher T. Sullivan,Susan L. Christian,Omar A. Abdul-Rahman,Joan F. Atkin,Nicolas Chassaing,Valérie Drouin-Garraud,Andrew E. Fry,Jean-Pierre Fryns,Karen W. Gripp,Marlies Kempers,Tjitske Kleefstra,Grazia M.S. Mancini,Małgorzata J.M. Nowaczyk,Conny M. A. van Ravenswaaij-Arts,Tony Roscioli,Michael Marble,Jill A. Rosenfeld,Victoria Mok Siu,Bert B.A. de Vries,Jay Shendure,Alain Verloes,Joris A. Veltman,Han G. Brunner,M. Elizabeth Ross,Daniela T. Pilz,William B. Dobyns +32 more
TL;DR: The results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.
Journal ArticleDOI
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Tony Roscioli,Tony Roscioli,Erik-Jan Kamsteeg,Karen Buysse,Isabelle Maystadt,Jeroen van Reeuwijk,Christa van den Elzen,Ellen van Beusekom,Moniek Riemersma,Rolph Pfundt,Lisenka E.L.M. Vissers,Margit Schraders,Umut Altunoglu,Michael F. Buckley,Han G. Brunner,Bernard Grisart,Huiqing Zhou,Joris A. Veltman,Christian Gilissen,Grazia M.S. Mancini,Paul Delrée,Michèl A.A.P. Willemsen,Danijela Petković Ramadža,David Chitayat,Christopher P. Bennett,Eamonn Sheridan,Els A. J. Peeters,Gita M. B. Tan-Sindhunata,Christine E. M. de Die-Smulders,Koenraad Devriendt,Hülya Kayserili,Osama Abd El-Fattah El-Hashash,Derek L. Stemple,Dirk J. Lefeber,Yung-Yao Lin,Hans van Bokhoven +35 more
TL;DR: Results implicate ISPD in α-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates and Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated α-dieselcan.
Journal ArticleDOI
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
Evelyn N. Kouwenhoven,Simon J. van Heeringen,Juan J. Tena,Martin Oti,Bas E. Dutilh,M. Eva Alonso,Elisa de la Calle-Mustienes,Leonie Smeenk,Tuula Rinne,Lilian Parsaulian,Emine Bolat,Rasa Jurgelenaite,Martijn A. Huynen,Alexander Hoischen,Joris A. Veltman,Han G. Brunner,Tony Roscioli,Emily C. Oates,Meredith Wilson,Miguel Manzanares,José Luis Gómez-Skarmeta,Hendrik G. Stunnenberg,Marion Lohrum,Hans van Bokhoven,Huiqing Zhou +24 more
TL;DR: It is shown that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development.