Concurrent Sessions C01 - C06 - Saturday, May 31 - 18.30 - 20.00 hrs
| Room | Gold Room | Space 3+4 | Brown 3 | Brown 1+2 | Space 1 | Space 2 |
| C01. Prenatal testing | C02. Personalized medicine and pharmacogenomics | C03. Intellectual disability | C04. Cardiovascular disorders | C05. Genes and development I | C06. Functional and computational genomics | |
| 18.30 | C01.1 Clinical implementation of non-invasive prenatal aneuploidy detection Nathalie Brison*, B. Bayindir, P. Brady, L. Dehaspe, S. Ardui, J. Van Houdt, H. Van Esch, E. Legius, T. De Ravel, K. Devriendt, J.R. Vermeesch; | C02.1 A novel variant in the SLC9A9 gene influences disease activity in interferon-beta treated multiple sclerosis patients Melissa Sorosina*, F. Esposito, C. Guaschino, G. Liberatore, A. Osiceanu, V. Martinelli, D. Brassat, G. Comi, P.L. De Jager, F. Martinelli Boneschi; | C03.1 Dominant ?-catenin mutations cause a recognizable syndrome with intellectual disability, and are associated with learning deficits and structural and functional brain abnormalities in mice Marjolein H. Willemsen*, V. Tucci, T. Kleefstra, A. Hardy, I. Heise, S. Maggi, W. Wissink-Lindhout, A. Vulto-van Silfhout, B. de Vries, Z. Iqbal, H. Brunner, W. Nillesen, H. Yntema, H. Hilton, M. Simon, S. Tsaftaris, H. van Bokhoven, A. Constestabile, T. Nieus, A. Raimondi, B. Greco, D. Cantatore, L. Gasparini, L. Berdondini, A. Bifone, J. Veltman, L. Peart-Vissers, A. Gozzi, S. Wells, P. Nolan; | C04.1 EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension Melanie Eyries, D. Montani, B. Girerd, C. Perret, A. Leroy, C. Lonjou, N. Chelghoum, F. Coulet, D. Bonnet, P. Dorfmüller, E. Fadel, O. Sitbon, G. Simonneau, D. Tregouët, M. Humbert, F. Soubrier; | C05.1 Compound inheritance of a low-frequency promoter deletion and a null mutation in a new gene causes Burn-McKeown syndrome (BMKS) Dagmar Wieczorek, W.G. Newman, T. Wieland, T. Berulava, M. Kaffe, D. Falkenstein, C. Beetz, S. Douzgou, J. Clayton-Smith, S.B. Daly, S.G. Williams, S. Bhaskar, J. Urquhart, B. Anderson, J. O'Sullivan, O. Boute, E. Graf, J.C. Czeschik, A.J. van Essen, F. Hazan, A. Hing, A. Kuechler, J. Lemke, C. Marques Lourenco, U. Hehr, B. Horsthemke, T. Meitinger, J. Burn, H. Lüdecke, T.M. Strom; | C06.1 Resolving variants of unknown significance through reanalysis of 4,978 public RNA-seq samples Patrick Deelen*, D.V. Zhernakova, M. van der Sijde, J. Karjalainen, J.K. van der Velde, M. de Haan, K.M. Abbott, C. Wijmenga, R.J. Sinke, M.A. Swertz, J. Fu, L. Franke; |
| 18.45 | C01.2 Clinical Validation of Noninvasive Prenatal risk assessment for fetal sex chromosome aneuploidies in maternal plasma using Direct ANalysis of Selected Regions (DANSR™) assays Kypros H. Nicolaides, T. Musci, C. Struble, E. Wang, J. Hooks, A. Syngelaki, M. del Mar Gil, A. Oliphant, A. Wolfberg; | C02.2 High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments Aldesia Provenzano*, B. Mazzinghi, F. Becherucci, L. Giunti, G. Sansavini, F. Ravaglia, R. Roperto, S. Farsetti, E. Benetti, M. Rotondi, L. Murer, L. Lasagni, M. Materassi, P. Romagnani, S. Giglio; | C03.2 De Novo loss of function mutations in SETD5, a novel methyltransferase gene within the 3p25 microdeletion syndrome critical region, cause intellectual disability Keren J. Carss*, D. Grozeva, O. Spasic-Boskovic, M.J. Parker, H. Archer, H.V. Firth, S. Park, N. Canham, S.E. Holder, M. Wilson, A. Hackett, M. Field, J.A.B. Floyd, UK10K Consortium, M.E. Hurles, F.L. Raymond; | C04.2 Rare variants in NR2F2 cause congenital heart defects in humans S. Al Turki*, A.K. Manickaraj*, Catherine L. Mercer*, S. Gerety*, M.P. Hitz, S. Lindsay, L.C.A. D'Alessandro, G.J. Swaminathan, J. Bentham, A.K. Arndt, J. Breckpot, J. Low, B. Thienpont, H. Abdul-Khaliq, C. Harnack, K. Hoffmann, H.H. Kramer, S. Schubert, R. Siebert, O. Toka, C. Cosgrove, H. Watkins, A.M. Lucassen, I.M. O'Kelly, A.P. Salmon, F.A. Bu’Lock, J. Granados-Riveron, K. Setchfield, C. Thornborough, J.D. Brook, B. Mulder, S. Klaassen, S. Bhattacharya, K. Devriendt, D.F. FitzPatrick, S. Mital, M.E. Hurles, D.I. Wilson; | C05.2 Genetic studies of mosaic birth defects affecting the skin by next-generation DNA sequencing Jean-Baptiste Rivière, J. St-Onge, Y. Duffourd, J. Courcet, Fédération des Centres Labellisés « Anomalies du Développement » (FeCLAD), Filière des Maladies Rares en Dermatologie (FIMARAD), Société française de Foetopathologie (SOFFOET), L. Faivre, B. Demeer, P. Vabres; | C06.2 The long non-coding RNA landscape of autoimmune diseases Cisca Wijmenga, I. Ricaño-Ponce, Y. Li, B. Hrdlickova, D. Zhernakova, J. Karjalainen, P. Deelen, S. Withoff, L. Franke, V. Kumar; |
| 19.00 | C01.3 mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development Sophie Monnot, S. Rondeau, P. Vachin, E. Herzog, B. Bessieres, N. Gigarel, D. Samuels, L. Hesters, N. Frydman, G. Chalouhi, M. Rio, A. Rotig, A. Benachi, L. Salomon, A. Munnich, J. Bonnefont, J. Steffann; | C02.3 Personalized thiopurine dosing based on TPMT genotyping reduces leucopenia occurrence and results in cost-savings in IBD patients; results from a randomized trial in the Netherlands Marieke J.H. Coenen, D.J. de Jong, C.J. van Marrewijk, L.J.J. Derijks, S.H. Vermeulen, D.R. Wong, O.H. Klungel, A.L.M. Verbeek, P. Hooymans, W.H.M. Peters, R.H.M. te Morsche, TOPIC recruitment team, W.G. Newman, H. Scheffer, H. Guchelaar, B. Franke; | C03.3 Genetic heterogeneity in Hyperphosphatasia with Mental Retardation Syndrome due to mutations in PGAP3, a member of the GPI anchor synthesis pathway Denise Horn, Y. Murakami, C. Daumer-Haas, B. Fischer, J. Hecht, U. Kölsch, S. Leiz, Y. Maeda, D. Mitchell, J. Phillips, S. Mundlos, P.N. Robinson, P.M. Krawitz; | C04.3 Loss of alpha1 beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia D. Hervé, A. Philippi, R. Belbouab, M. Zerah, S. Chabrier, S. Collardeau-Frachon, F. Bergametti, A. Essongue, E. Berrou, V. Krivosic, C. Sainte-Rose, E. Houdart, F. Adam, K. Billiemaz, M. Lebret, S. Roman, S. Passemard, G. Boulday, A. Delaforge, S. Guey, X. Dray, P. Brouckaert, M. Bryckaert, Elisabeth Tournier-Lasserve; | C05.3 A point mutation in STIM1 (p.R304W) is associated with Stormorken syndrome Gilles Morin, N. Ortiz Bruechle, A. Rabbind Singh, C. Knopp, G. Jedraszak, M. Elbracht, D. Brémond-Gignac, K. Hartmann, H. Sevestre, P. Deutz, D. Hérent, P. Nürnberg, B. Roméo, K. Konrad, M. Mathieu-Dramard, J. Oldenburg, E. Bourges-Petit, Y. Shen, K. Zerres, H. Ouadid-Ahidouch, J. Rochette; | C06.3 Population Scale Comprehensive Identification and Analysis of Complex Structural Variation Using Nanochannel Array H. Dai, A. Hastie, E. Lam, W. Andrews, T. Anantharaman, A. Pang, M. Saghibini, H. Sadoski, H. VanSteenhouse, M. Austin, X. Yang, T. Dickinson, Z. Dzakula, M. Xiao, P. Kwok, Han Cao; |
| 19.15 | C01.4 Whole-genome single-cell haplotyping, a generic method for preimplantation genetic diagnosis Masoud Zamani Esteki*, E. Dimitriadou, L. Mateiu, C. Melotte, N. Van der Aa, P. Kumar, R. Das, J. Cheng, E. Legius, Y. Moreau, S. Debrock, T. D’Hooghe, P. Verdyck, M. De Rycke, K. Sermon, J. Vermeesch, T. Voet; | C02.4 Genome-wide identification and phenotypic validation of loss of function mutations Leslie G. Biesecker, K. Lewis, D. Ng, J. Johnston, J. Mullikin; | C03.4 The significance of small copy number variants in neuro-developmental disorders Reza Asadollahi*, B. Oneda, P. Joset, S. Azzarello-Burri, D. Bartholdi, K. Steindl, M. Vincent, J. Cobilanschi, H. Sticht, R. Baldinger, R. Reissmann, I. Sudholt, C.T. Thiel, A.B. Ekici, A. Reis, E.K. Bijlsma, J. Andrieux, A. Dieux, D. FitzPatrick, S. Ritter, A. Baumer, B. Latal, B. Plecko, O. Jenni, A. Rauch; | C04.4 From Identification of Differing TIE2 Mutations with Distinct Cellular Characteristics in Four Types of Venous Anomalies towards a Murine Model and a Therapeutic Pilot Study N. Limaye, J. Soblet, M. Uebelhoer, M. Natynki, E. Boscolo, L. Eklund, J. Bischoff, L.M. Boon, Miikka S. Vikkula; | C05.4 TashT is a novel mouse model that phenocopies both the variable penetrance and male sex-bias of Hirschsprung’s disease Nicolas Pilon, K.F. Bergeron, T. Cardinal, A.M. Touré, D.W. Silversides; | C06.4 Chromatin loops and CNVs: the complex spatial organization of the 16p11.2 locus Maria Nicla Loviglio*, M. Leleu, N. Gheldof, E. Migliavacca, K. Mannik, J. Beckmann, S. Jacquemont, J. Rougemont, A. Reymond; |
| 19.30 | C01.5 Scenarios for implementation of noninvasive prenatal testing (NIPT) for Down syndrome in a national health care system Elke Mersy*, C.E.M. de Die-Smulders, A.B.C. Coumans, L.J.M. Smits, G.M.W.R. de Wert, S.G.M. Frints, J.A. Veltman; | C02.5 The SickKids Genome Clinic: Developing and evaluating a pediatric model for individualized genomic medicine M S. Meyn, S. Bowdin, N. Monfared, D. Merico, D.J. Stavropoulos, M. Girdea, R. Hayeems, M. Szego, G. Bader, R.D. Cohn, J.A. Anderson, R. Zlotnik-Shaul, M. Brudno, C. Shuman, C.R. Marshall, P.N. Ray; | C03.5 Rare large CNVs are associated with intellectual disability, education level, and female fertility in general population Alexandre Reymond, K. Männik, R. Mägi, A. Mace, A. Maillard, H. Alavere, A. Kolk, L. Leitsalu, A. Ferreira, M. Noukas, J.S. Beckmann, S. Jacquemont, Z. Kutalik, A. Metspalu; | C04.5 A high yield of variants with a putative role as modifiers in patients with hypertrophic cardiomyopathy Sara Bardi, F. Girolami, M. Benelli, B. Tomberli, E. Contini, G. Marseglia, C. Pescucci, G. Castelli, A. Fornaro, F. Cecchi, I. Olivotto, F. Torricelli; | C05.5 WNT pathway downregulation and Cornelia de Lange Syndrome Anna Pistocchi, G. Fazio, L.R. Bettini, A. Cereda, L. Ferrari, F. Cotelli, A. Biondi, A. Selicorni, V. Massa; | C06.5 Informing rare disease mechanisms: informatics for the International Mouse Phenotyping Consortium Terrence F. Meehan, on behalf of the MPI2 Consortium; |
| 19.45 | C01.6 Whole genome sequencing and analysis in prenatal screening: ethical reflection Guido de Wert, W. Dondorp; | C02.6 Collaboration to integrate genomics into clinical care: a demonstration evaluation Clara Gaff, N. Thorne, I. Macciocca, P. Waring, S. Forrest, P. Ekert, I. Winship, T. Lockett, M. South, A. Sinclair, Melbourne Genomics Health Alliance; | C03.6 Altered neuronal network in iPSC derived cortical neurons from patients with MECP2 duplication syndrome S. Nageshappa, C. Carromeu, I. Espuny-Camacho, C. Bagni, C. Verfaillie, C. Carvalho, M. Ramocki, J. Lupski, P. Vanderhaeghen, A. Muotri, Hilde Van Esch; | C04.6 Causal relationship of body mass index with cardiometabolic traits and events: a Mendelian randomization analysis Michael V. Holmes*, L.A. Lange, T. Palmer, M.B. Lanktree, IBC BMI Mendelian Randomization Group, E.E. Schadt, F.W. Asselbergs, A.P. Reiner, B.J. Keating; | C05.6 Trio-based exome sequencing in ten unrelated cases of atypical CdLS Morad Ansari, A. Meynert, H. Bengani, D. Braunholz, D.C. Soares, R.C.M. Hennekam, H. Kayserili, S. Avci, E. Wakeling, J. Tolmie, K. Tatton-Brown, M. Splitt, T. Homfray, A.F. Brady, S.G. Mehta, A. Ross, F.J. Kaiser, M.S. Taylor, D.R. FitzPatrick; | C06.6 Strategies for Exome Prioritization of Human Disease Genes Damian Smedley, S. Kohler, A. Oellrich, J. Jacobsen, Sanger Mouse Genetics Group, K. Wang, C. Mungall, N. Washington, S. Bauer, D. Seelow, P. Krawitz, C. Gilissen, M. Haendel, S.E. Lewis, P.N. Robinson; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates