T. Roscioli's Profile

Role	Title	Level	Year	L/R
🐜	Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification 22 auth. F. Rutsch, N. Ruf, S. Vaingankar, M. Toliat, Anita Suk, W. Höhne, G. Schauer, M. Lehmann, T. Roscioli, D. Schnabel, ... J. Epplen, A. Knisely, A. Superti-Furga, J. Mcgill, M. Filippone, A. Sinaiko, H. Vallance, B. Hinrichs, Wendy E Smith, M. Ferre, R. Terkeltaub, P. Nürnberg	9	2003	9 🐜
🐜	Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome 29 auth. P. Krawitz, M. Schweiger, C. Rödelsperger, C. Marcelis, U. Kölsch, C. Meisel, Friederike Stephani, T. Kinoshita, Y. Murakami, Sebastian Bauer, Melanie Isau, A. Fischer, A. Dahl, M. Kerick, J. Hecht, ... Sebastian Köhler, M. Jäger, Johannes Grünhagen, Birgit Jonske de Condor, S. Doelken, H. Brunner, P. Meinecke, E. Passarge, M. Thompson, D. Cole, D. Horn, T. Roscioli, S. Mundlos, P. Robinson	8	2010	8 🐜
🐜	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome 33 auth. J. Rivière, B. V. van Bon, A. Hoischen, S. Kholmanskikh, B. O’Roak, C. Gilissen, Sabine Gijsen, C. T. Sullivan, S. Christian, Omar Abdul-Rahman, J. Atkin, N. Chassaing, V. Drouin‐Garraud, A. Fry, J. Fryns, ... K. Gripp, M. Kempers, T. Kleefstra, G. Mancini, Małgorzata J. M. Nowaczyk, C. V. van Ravenswaaij-Arts, T. Roscioli, M. Marble, J. Rosenfeld, V. Siu, B. D. de Vries, J. Shendure, A. Verloes, J. Veltman, H. Brunner, M. Ross, D. Pilz, W. Dobyns	8	2012	8 🐜
🐜	GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects 75 auth. K. Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, H. Heyne, K. Helbig, Sha Tang, M. Willing, B. Tinkle, Darius J. Adams, C. Depienne, B. Keren, ... C. Mignot, E. Frengen, P. Strømme, S. Biskup, D. Döcker, T. Strom, H. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, L. Sadleir, I. Scheffer, E. Brilstra, M. V. van Haelst, J. van der Smagt, L. Bok, R. Møller, U. Jensen, J. Millichap, A. Berg, Ethan M. Goldberg, I. De Bie, S. Fox, P. Major, Julie R. Jones, E. Zackai, R. Abou Jamra, A. Rolfs, R. Leventer, J. Lawson, T. Roscioli, F. Jansen, E. Ranza, C. Korff, A. Lehesjoki, C. Courage, T. Linnankivi, Douglas R. Smith, C. Stanley, M. Mintz, D. McKnight, Amy Decker, W. Tan, M. Tarnopolsky, L. Brady, M. Wolff, Lutz Dondit, Helio F. Pedro, S. Parisotto, Kelly L Jones, Anup D. Patel, D. Franz, R. Vanzo, E. Marco, J. Ranells, N. Di Donato, W. Dobyns, B. Laube, S. Traynelis, J. Lemke	7	2017	7 🐜
🐢	Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders 23 auth. Lisa J Ewans, D. Schofield, Rupendra T. Shrestha, Ying Zhu, V. Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, E. Kirk, A. Colley, ... C. Ellaway, A. Turner, D. Mowat, L. Worgan, M. Freckmann, M. Lipke, R. Sachdev, David Miller, M. Field, M. Dinger, M. Buckley, M. Cowley, T. Roscioli	7	2018	7 🐢
🐜	Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. 50 auth. Cindy S. Ma, Natalie Wong, Geetha Rao, D. Avery, J. Torpy, Thomas Hambridge, J. Bustamante, S. Okada, J. Stoddard, E. Deenick, Simon J. Pelham, Kathryn J. Payne, S. Boisson-Dupuis, A. Puel, Masao Kobayashi, ... P. Arkwright, S. Kilic, J. El Baghdadi, S. Nonoyama, Y. Minegishi, S. Mahdaviani, D. Mansouri, A. Bousfiha, Annaliesse Blincoe, M. French, P. Hsu, D. Campbell, M. Stormon, M. Wong, S. Adelstein, Joanne M. Smart, D. Fulcher, M. Cook, T. Phan, P. Stepensky, K. Boztug, A. Kansu, A. Ikinciogulları, U. Baumann, R. Beier, T. Roscioli, J. Ziegler, Paul E A Gray, C. Picard, B. Grimbacher, K. Warnatz, S. Holland, J. Casanova, G. Uzel, S. Tangye	7	2015	7 🐜
🐜	Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus 25 auth. Evelyn N. Kouwenhoven, S. V. Heeringen, J. Tena, M. Oti, B. Dutilh, M. Alonso, E. Calle-Mustienes, L. Smeenk, T. Rinne, Lilian Parsaulian, Emine Bolat, R. Jurgelenaite, M. Huynen, A. Hoischen, J. Veltman, ... H. Brunner, T. Roscioli, E. Oates, Meredith Wilson, M. Manzanares, J. Gómez-Skarmeta, H. Stunnenberg, M. Lohrum, H. Bokhoven, Huiqing Zhou	7	2010	7 🐜
🐜	Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. 66 auth. S. Lunke, Stefanie Eggers, Meredith Wilson, C. Patel, C. Barnett, J. Pinner, S. Sandaradura, M. Buckley, Emma I. Krzesinski, Michelle G. de Silva, Gemma R. Brett, Kirsten Boggs, D. Mowat, E. Kirk, L. Adès, ... Lauren S. Akesson, D. Amor, S. Ayres, A. Baxendale, S. Borrie, A. Bray, N. Brown, C. Chan, B. Chong, C. Cliffe, M. Delatycki, M. Edwards, G. Elakis, M. Fahey, A. Fennell, L. Fowles, L. Gallacher, Megan E. Higgins, K. Howell, L. Hunt, M. Hunter, K. Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, A. Ma, D. Phelan, M. Quinn, A. Richards, C. Richmond, J. Riseley, Jonathan Rodgers, R. Sachdev, S. Sadedin, L. Schlapbach, Janine M. Smith, A. Springer, Natalie B Tan, T. Tan, S. E. Temple, C. Theda, Anand Vasudevan, S. White, A. Yeung, Ying Zhu, M. Martyn, S. Best, T. Roscioli, J. Christodoulou, Zornitza Stark	7	2020	7 🐜
🐜	Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 15 auth. P. Krawitz, Y. Murakami, J. Hecht, Ulrike Krüger, S. Holder, G. Mortier, B. Delle Chiaie, E. de Baere, M. Thompson, T. Roscioli, ... S. Kiełbasa, T. Kinoshita, S. Mundlos, P. Robinson, D. Horn	7	2012	7 🐜
🐜	Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome 17 auth. K. Buysse, M. Riemersma, Gareth T. Powell, J. van Reeuwijk, D. Chitayat, T. Roscioli, E. Kamsteeg, C. van den Elzen, E. van Beusekom, S. Blaser, ... R. Babul‐Hirji, W. Halliday, Gavin J. Wright, D. Stemple, Yung-Yao Lin, D. Lefeber, H. van Bokhoven	7	2013	7 🐜
🐜	Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome 35 auth. Mark T. Handley, D. Morris-Rosendahl, Stephen Brown, F. Macdonald, C. Hardy, D. Bem, Sarah M Carpanini, G. Borck, L. Martorell, C. Izzi, F. Faravelli, P. Accorsi, L. Pinelli, L. Basel‐Vanagaite, G. Peretz, ... G. Abdel-Salam, M. Zaki, A. Jansen, D. Mowat, I. Glass, H. Stewart, G. Mancini, D. Lederer, T. Roscioli, F. Giuliano, A. Plomp, A. Rolfs, J. Graham, E. Seemanová, P. Póo, À. García-Cazorla, P. Edery, I. Jackson, E. Maher, I. Aligianis	6	2013	6 🐜