Concurrent Sessions C18 - C22 - Tuesday, June 3 - 11.00 - 12.30 hrs
| Room | Gold Room | Space 3+4 | Brown 3 | Brown 1+2 | Space 1 |
C18. Large scale genomics | C19. Internal organs | C20. Basic mechanisms in genetics | C21. Rasopathies and CDG | C22. Returning results: Ethical and legal issues (joint ESHG/EMPAG session) | |
| 11.00 | C18.1 Molecular Inversion Probe based Resequencing Identifies Recurrently Mutated Genes in Intellectual Disability Alexander Hoischen, L.E.L.M. Vissers, B.P. Coe, C. Gilissen, A. Vulto-Silfhout, J. Schuurs-Hoeijmakers, M. van de Vorst, M. Steehouwer, P. de Vries, C. Baker, K. Witherspoon, B.J. O’Roak, J. Shendure, H.G. Brunner, C. Romano, B.B.A. de Vries, J.A. Veltman, E.E. Eichler; | C19.1 Constitutive Activation of PRKACA in Adrenal Cushing's Syndrome Thomas Schwarzmayr*, F. Beuschlein, M. Fassnacht, G. Assié, D. Calebiro, C.A. Stratakis, A. Osswald, C.L. Ronchi, T. Wieland, S. Sbiera, F.R. Faucz, K. Schaak, A. Schmittfull, O. Barreau, D. Vezzosi, M. Rizk-Rabbin, U. Zabel, E. Szarek, P. Salpea, A. Forlino, A. Vetro, O. Zuffardi, C. Kisker, S. Diener, T. Meitinger, M.J. Lohse, M. Reincke, J. Bertherat, T.M. Strom, B. Allolio; | C20.1 Single cell allele-specific expression (ASE) in Down syndrome and common aneuploidies. Georgios Stamoulis*, P.G. Ferreira, P. Makrythanasis, F. Santoni, M. Guipponi, M. Garieri, E. Falconnet, P. Ribaux, E.T. Dermitzakis, C. Borel, S.E. Antonarakis; | C21.1 Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal dominant Dowling-Degos disease Fitnat B. Basmanav*, A. Oprisoreanu, S.M. Pasternack, H. Thiele, G. Fritz, J. Wenzel, L. Größer, M. Wehner, S. Wolf, C. Fagerberg, A. Bygum, J. Altmüller, A. Rütten, L. Parmentier, L. El Shabrawi-Caelen, C. Hafner, P. Nürnberg, R. Kruse, S. Schoch, S. Hanneken, R.C. Betz; | C22.1 The impact of reporting exome and whole genome sequencing: Predicted frequencies of primary, secondary and incidental findings based on modelling Leslie Burnett, L.C. Ding, R.M. Lew, D. Chesher, A.L. Proos; |
| 11.15 | C18.2 Efficient molecular diagnosis of Intellectual Disability: targeted High throughput exon sequencing of 217 ID genes detects causative mutations in at least 26 of 106 tested patients Jean Louis Mandel, C. Redin, J. Muller, B. Gérard, B. Jost, M. Dumas, S. Le Gras, the French clinical genetics of ID consortium, D. Bonneau, H. Dollfus, Y. Alembik, E. Flori, V. Drouin Garraud, D. Lacombe, M. Doco Fenzy, P. Sarda, D. Geneviève, P. Edery, B. Isidor, L. Olivier Faivre, A. Piton; | C19.2 A mutation in SEC61A1 causes autosomal dominant interstitial kidney disorder associated with anemia and growth retardation Bart Loeys, N. Bolar, C. Golzio, C. Van Hemelrijk, A. Hoischen, J. Huyghe, A. Raes, E. Matthys, E. Sys, M. Gubler, C. Antignac, M. Azou, G. Van Camp, S. Kmoch, A. Bleyer, J. Vande Walle, G. Mortier, H. Brunner, L. Van Laer, N. Katsanis; | C20.2 Distinct properties of de novo mutations from whole genome sequencing of 50 patient-parent trios Michele Pinelli, B. Tan, J.M. van de Vorst, R. Leach, R. Klein, L.E.L.M. Vissers, H.G. Brunner, J.A. Veltman, A. Hoischen, C. Gilissen; | C21.2 The phenotypic spectrum of SHOC2 c.4A>G (p.Ser2Gly) Christina Lissewski*, L. Mazzanti, G. Zampino, V. Cordeddu, E. Burkitt-Wright, A. De Luca, C. Rossi, I. van der Burgt, A. Verloes, B. Dallapiccola, B.D. Gelb, B. Kerr, K. Kutsche, H. Cavé, M. Tartaglia, M. Zenker; | C22.2 Defending the child’s right to an open future concerning genetic information. Annelien L. Bredenoord*, M.C. de Vries, J.J. van Delden; |
| 11.30 | C18.3 Comprehensive NGS based diagnostics in over 1000 patients with epileptic disorders Isabelle Steiner, M. Doecker, A.C. Russ, J. Juengling, K. Reicherter, J. Hoffmann, S. Fehr, F. Battke, J. Lemke, H. Lerche, S. Biskup, K. Hoertnagel; | C19.3 TJP2 deficiency: a new cholestatic liver disease Melissa Sambrotta*, S. Strautnieks, E. Papouli, P. Rushton, B.E. Clark, D.A. Parry, L. Brett, C.V. Logan, L.J. Newbury, B.M. Kamath, S. Ling, T. Grammatikopoulos, B.E. Wagner, J.C. Magee, R.J. Sokol, G. Mieli-Vergani, University of Washington Center for Mendelian Genomics, J.D. Smith, C.A. Johnson, S. Davison, P. McClean, M.A. Simpson, A.S. Knisely, L.N. Bull, R.J. Thompson; | C20.3 Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncover a key role of the upstream cis-regulatory element CNE-3 H. Verdin, A. Fernández Miñán, K. De Leeneer, L. Borms, S. Janssens, B. Callewaert, F. Malfait, A. Kariminejad, K. De Waele, J. De Schepper, I. François, A. Dheedene, B. Menten, J.L. Gómez-Skarmeta, Elfride De Baere*; | C21.3 Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Helger G. Yntema, L.E.L.M. Vissers, M. Bonetti, J. Paardekooper Overman, W.M. Nillesen, S.G.M. Frints, J. de Ligt, G. Zampino, A. Justino, J.C. Machado, M. Schepens, H.G. Brunner, J.A. Veltman, P. Gros, J.L. Costa, M. Tartaglia, J. den Hertog, I. van der Burgt; | C22.3 Implementation of a duty-to-recontact system in molecular and clinical genetics: perspectives from professionals and patients Mirjam Plantinga, W. Lamers, A.V. Ranchor, M.A. Verkerk, E. Birnie, I.M. van Langen; |
| 11.45 | C18.4 Planar cell polarity gene mutations contribute to the etiology of human Neural Tube Defects Patrizia De Marco, E. Merello, G. Piatelli, A. Cama, Z. Kibar, V. Capra; | C19.4 Identification and functional characterization of ESR2, a new disease gene for 46,XY disorders of sex development (DSD). Dorien Baetens*, T. Guran, L. De Cauwer, L. Looijenga, K. De Bosscher, M. Cools, E. De Baere; | C20.4 Pseudoautosomal region 1 length polymorphism in the human population Martin A. Mensah*, M.S. Hestand, M.H.D. Larmuseau, M. Isrie, N. Vanderheyden, M. Declercq, E.L. Souche, J. Van Houdt, R. Stoeva, H. Van Esch, K. Devriendt, T. Voet, R. Decorte, P.N. Robinson, J.R. Vermeesch; | C21.4 A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype Pamela Magini*, T. Pippucci, I. Tsai, S. Coppola, E. Stellacci, A. Bartoletti-Stella, D. Turchetti, C. Graziano, G. Cenacchi, I. Neri, D.M. Cordelli, V. Marchiani, R. Bergamaschi, G. Gasparre, G. Neri, L. Mazzanti, A. Patrizi, E. Franzoni, G. Romeo, D. Bordo, M. Tartaglia, N. Katsanis, M. Seri; | C22.4 International views on sharing incidental findings from whole genome research Anna Middleton, M. Parker, C. Wright, H. Firth, E. Bragin, M. Hurles, O. DDD Project; |
| 12.00 | C18.5 Clinical exome sequencing for cerebellar ataxia and spastic paraplegia reveals novel gene-disease associations and uncovers unanticipated rare disorders Erik-jan Kamsteeg, B.P. van de Warrenburg, S.T. de Bot, M.A.A.P. Willemsen, S. Vermeer, M.I. Schouten, R. Meijer, M. Pennings, C. Gilissen, H. Scheffer; | C19.5 LRP5 variants associated with development of polycystic kidney and liver disease Wybrich R. Cnossen*, R.H.M. te Morsche, A. Hoischen, C. Gilissen, H. Venselaar, S. Mehdi, C. Bergmann, M. Losekoot, M.H. Breuning, D.J.M. Peters, J.A. Veltman, J.P.H. Drenth; | C20.5 Comparative proteomic analysis of different fragile X syndrome cell lines S. Lanni, F. Palumbo, M. Goracci, G. Mancano, A. Vitali, V. Marzano, F. Iavarone, F. Vincenzoni, M. Castagnola, P. Chiurazzi, Elisabetta Tabolacci, G. Neri; | C21.5 Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis Francesca Pantaleoni*, M. Jaiswal, E. Flex, S. Martinelli, M. Strullu, E.K. Fansa, A. Caye, A. De Luca, F. Lepri, L. Pannone, S. Paolacci, G. Bocchinfuso, C. Rossi, A. Farrotti, O. Fenneteau, B. Brethon, P. Cianci, E. Di Schiavi, A. Selicorni, B. Dallapiccola, I.C. Cirstea, L. Stella, M. Zenker, B.D. Gelb, H. Cavé, M.R. Ahmadian, M. Tartaglia; | C22.5 Newborn screenings and whole genome sequencing: the real need of a genuine public involvement Marta Tomasi, A. Santosuosso; |
| 12.15 | C18.6 WES detects disease causing SNVs and CNVs in Primary immunodeficiencies Hanne S. Sorte, A. Stray-Pedersen, P.S. Samarakoon, L. Forbes, T. Gambin, O.K. Rødningen, I.C. Hanson, L.M. Noroski, C. Davis, F. Seeborg, S.K. Nicholas, J.W. Caldwell, N.Y. Chokshi, D. Bayer, C.R. Beck, T.J. Vece, W. Wiszniewski, S.J. Penney, S.N. Jhangiani, D. Muzny, L.O. Mæhle, A. Patel, H.C. Erichsen, T.G. Abrahamsen, J. Buchner, G.E. Tjonnfjord, P. Aukrust, L.T. Osnes, M.A. Kulseth, D.E. Undlien, W.T. Shearer, B. Fevang, R.A. Gibbs, R. Lyle, J.S. Orange, J.R. Lupski; | C19.6 Digenic model in Alport syndrome Maria Antonietta Mencarelli*, M. van Geel, H. Storey, C. Fallerini, L. Dosa, M. Antonucci, F. Cetta, A. van den Wijngaard, S. Yau, F. Mari, M. Bruttini, F. Ariani, K. Dahan, B. Smeets, F. Flinter, A. Renieri; | C20.6 RNA-DNA Differences in Endoplasmic Reticulum Stress Response Allison L. Richards*, S. Liu, Z. Zhu, V.G. Cheung; | C21.6 A New Mouse Model for Costello Syndrome Tania Sorg, B. Arveiler, M. Birling, G. Bou About, M. Champy, F. Dupuy, I. Goncalves, M. Jagla, H. Jacobs, H. Meziane, G. Pavlovic, N. Philip, F. Radvanyi, R. Rossignol, M. Roux, S. Sigaudy, Y. Herault, D. Lacombe; | C22.6 Current Developments in the Regulation of Direct-to-Consumer Genetic Testing in Europe Louiza M. Kalokairinou*, H.C. Howard, P. Borry; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates