Concurrent Sessions C19 - C23 - Tuesday, June 9 - 11.00 - 12.30 hrs
| Room | Clyde Auditorium | Hall 2 | Lomond Auditorium | Hall 1 | Forth Room |
C19. Diagnostic NGS | C20. Current issues in genet(h)ics | C21. Multiple congenital anomaly syndromes | C22. Statistical genetics and bioinformatics | C23. Movement and motor disorders | |
| 11.00 | C19.1 Large-scale, high-throughput testing of cancer predisposition genes using the TruSight Cancer panel Shazia Mahamdallie, E. Ruark, A. Fowler, M. Münz, V. Cloke, A. George, S. Seal, G. Lunter, N. Rahman, Mainstreaming Cancer Genetics Programme; | C20.1 Ethical and legal challenges of genomic cloud computing Edward S. Dove, M. Phillips, Y. Joly, A. Tassé, B.M. Knoppers; | C21.1 Recurrent de novo p.Arg83Cys mutations in the acetyl CoA binding site of NAA10 are associated with atypical Cornelia de Lange syndrome Morad Ansari, N. Akawi, H. Bengani, A.M. Meynert, I. Parenti, J. Pozojevic, D.C. Soares, C. Martin, A. Blatnik, H. Kayserili, S. Avci, S. Joss, K. Tatton-Brown, F. Elmslie, M. Suri, S. Mansour, K.S. Wendt, E. Watrin, F.J. Kaiser, M.S. Taylor, M.E. Hurles, D.R. FitzPatrick; | C22.1 The secrets of GWAS are written in the reads Claes Wadelius, M. Cavalli, G. Pan, H. Nord, O. Wallerman, E. Wallén Arzt, O. Berggren, I. Elvers, M. Eloranta, L. Rönnblom, K. Lindblad Toh; | C23.1 TBK1 mutations cause amyotrophic lateral sclerosis and fronto-temporal dementia Thomas Wieland*, A. Freischmidt, B. Richter, W. Ruf, V. Schäffer, K. Müller, N. Marroquin, F. Nordin, A. Hübers, P. Weydt, S. Pinto, R. Press, J. Dorst, E. Graf, T. Meyer, A.S. Winkler, J. Winkelmann, M. de Carvalho, D.R. Thal, M. Otto, T. Brännström, A.E. Volk, P. Sarvari, D.Y.R. Stainier, P. Kursula, K.M. Danzer, P. Lichtner, I. Dikic, T. Meitinger, A.C. Ludolph, P.M. Andersen, J.H. Weishaupt, T.M. Strom; |
| 11.15 | C19.2 Increasing accessibility and affordability of genetic testing through targeted clinical exome sequencing Stephen Abbs, H. Martin, K. Brugger, I. Delon, O. Spasic-Boskovic, G. Sagoo, F. Rodger, R. Littleboy, S. Mehta, S. Park, R. Armstrong, G. Woods, S. Holden, J. Campbell, C. Bennett, R. Sandford, E. Maher; | C20.2 In utero treatment of Down syndrome - proceed with care Guido M.W.R. de Wert, W.J. Dondorp; | C21.2 STAG1 haploinsufficiency is responsible for a new cohesinopathy with intellectual disability and characteristic facial features in four unrelated individuals Daphné Lehalle, A. Masurel-Paulet, A. Mosca-Boidron, M. Deardorff, H. Olivie, J. Thevenon, M. Willemsen, C. Zweier, A. Rauch, C. Gilissen, P. Callier, C. Thauvin-Robinet, L. Faivre; | C22.2 Optimal ancestry-matched imputation of GWAS association summary statistics using large reference panel of sequenced individuals Sina Rüeger, Z. Kutalik; | C23.2 PMPCA Mutations cause Abnormal Mitochondrial Protein Processing in Patients with Non-Progressive Cerebellar Ataxia R. Jobling, M. Assoum, O. Gakh, S. Blaser, J.A. Raiman, C. Mignot, E. Roze, A. Dürr, A. Brice, N. Lévy, C. Prasad, T. Paton, A.D. Paterson, N. Roslin, C.R. Marshall, J. Desvignes, N. Roëckel-Trevisiol, S. Scherer, G.A. Rouleau, A. Mégarbané, G. Isaya, Valerie Delague, G. Yoon; |
| 11.30 | C19.3 The RD-Connect platform includes the first 360 analysed exomes linked to phenotypic data and integrates user-friendly tools for rare disease variant prioritization D. Piscia, Steven Laurie*, A. Cañada, J. Fernández, C. Kingswood, J. Desvignes, M. Thompson, R. Kaliyaperumal, E. van der Horst, S. Lair, P. Sernadela, A. Topf, I. Zaharieva, M. Girdea, M. Brudno, A. Blavier, R. Thompson, H. Lochmüller, M. Bellgard, J. Paschall, P. Lopes, J. Oliveira, M. Roos, P. 't Hoen, V. de la Torre, A. Valencia, D. Salgado, C. Béroud, S. Beltran, I. Gut; | C20.3 Should children’s carrier results be reported following diagnostic WES/WGS? Danya F. Vears*, K. Sénécal, J. Massie, P. Borry; | C21.3 Wiedemann-Steiner Syndrome: Expanding the phenotypic spectrum associated with KMT2A (MLL) mutations Wendy D. Jones*, M. McEntagart, C. Deshpande, T. Deciphering Developmental Disorders Project, M.A. Simpson, M. Hurles, J. Barrett; | C22.3 A novel method and software tool for genome-wide multi-phenotype analysis of rare variants Marika Kaakinen*, R. Mägi, K. Fischer, M. Järvelin, A.P. Morris, I. Prokopenko; | PM09.128 Dominance and recessiveness, two faces of the same coin? Illustration with two new genes in autosomal dominant spinocerebellar degenerations M. Coutelier, A. Durr, L. Burglen, C. Goizet, F. Habarou, D. Rodriguez, S. Morais, J. Konop, S. Chantot-Bastaraud, C. Rougeot, I. Alonso, C. Tallaksen, R. Schule, M. Janin, M. Cournelle, P. Coutinho, M. Milh, A. Toutain, A. Afenjar, S. Zuchner, G. Rouleau, G. Nicholson, J. Saudubray, F. Darios, J. Leal de Loureiro, D. Héron, C. Ottolenghi, F. Mochel, A. Brice, G. Stevanin; |
| 11.45 | C19.4 Copy Number Analysis using Exon-level aCGH and Exome Sequencing in over 3,000 Parent-Offspring Trios from the Deciphering Developmental Disorders Project Tomas W. Fitzgerald*, J. McRae, D. de Vries, M. Hurles; | C20.4 Informed consent for whole exome sequencing in pediatric disease diagnostics: parental decision-making processes, their ethical relevance and implications for policy development Candice Cornelis*, M. van Summeren, I. Bolt, A. Tibben, W. Dondorp, M. van Haelst, A. Bredenoord, M. Düwell, N. Knoers; | C21.4 Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia via a maxillary to mandibular transformation Chris T. Gordon, N. Weaver, R. Zechi-Ceide, E. Madsen, A. Tavares, M. Oufadem, Y. Kurihara, I. Adameyko, A. Picard, S. Breton, S. Pierrot, M. Biosse-Duplan, N. Voisin, C. Masson, C. Bole-Feysot, P. Nitschké, M. Delrue, D. Lacombe, M. Guion-Almeida, P. Moura, D. Garib, A. Munnich, P. Ernfors, R. Hufnagel, R. Hopkin, H. Kurihara, H. Saal, D. Weaver, N. Katsanis, S. Lyonnet, C. Golzio, D. Clouthier, J. Amiel; | C22.4 The Exomiser suite for exome prioritization of human disease genes Damian Smedley, J. Jacobsen, S. Kohler, A. Oellrich, K. Wang, C. Mungall, N. Washington, S. Bauer, D. Seelow, P. Krawitz, C. Gilissen, M. Haendel, S.E. Lewis, P.N. Robinson; | C23.4 Homozygous truncating mutations in WDR73 cause a severe nephrocerebellar syndrome, part of the Galloway Mowat syndrome spectrum Emma L. Baple*, R. Jinks, E. Puffenberger, B. Harding, P. Crino, A. Fogo, O. Wenger, H. Wang, B. Xin, A. Koehler, M. McGlincy, L. Tran, M. Provencher, J. Smith, S. Al Turki, B. Chioza, R. Maroofian, G. Harlalka, M. Hurles, S. Gerety, H. Cross, A. Heaps, M. Morton, L. Stempak, F. Hildebrandt, C. Sadowski, J. Zaritsky, K. Campellone, H. Morton, K. Strauss, A.H. Crosby; |
| 12.00 | C19.5 Small exonic CNVs as causes of primary immunodeficiencies Asbjørg Stray-Pedersen, H.S. Sorte, T. Gambin, P.S. Samarakoon, S. Gu, L.R. Forbes, I. Chinn, Z.H.C. Akdemir, O.K. Rødningen, B. Yuan, P.M. Boone, A. Patel, S.J. Penney, W. Wiszniewski, S.N. Jhangiani, D. Muzny, R.A. Gibbs, R. Lyle, J.S. Orange, J.R. Lupski; | C20.5 A Human Rights Approach to International Data Sharing? Bartha Maria Knoppers, E. Dove; | C21.5 Mutations in transcription factor ZBTB20 cause tall stature, macrocephaly, cognitive deficits, diabetes, progressive muscle wasting and deafness Viviana Cordeddu*, B. Redeker, E. Stellacci, A. Jongejan, A. Fragale, T. Bradley, M. Anselmi, A. Ciolfi, S. Cecchetti, V. Muto, L. Bernardini, M. Azage, D. Carvalho, A. Espay, A. Male, A. Molin, R. Posmyk, C. Battisti, A. Casertano, D. Melis, A. van Kampen, F. Baas, M. Mannnens, G. Bocchinfuso, L. Stella, M. Tartaglia, R. Hennekam; | C22.5 Allele specific expression reveals common and rare regulatory variation acting in human substantia nigra and putamen Karishma D'Sa*, A. Ramasamy*, S. Guelfi*, J. Vandrovcova, J.A. Botía, D. Trabzuni, J.R. Gibbs, C. Smith, M. Matarin, V. Varghese, P. Forabosco, The UK Brain Expression Consortium (UKBEC), J. Hardy, M.E. Weale, M. Ryten; | C23.5 Mutations in PDE10A, resulting in a loss of PDE10A activity cause a hyperkinetic movement disorder in humans and in a mouse model. Eamonn G. Sheridan, R. Hinttala, J. Uusimaa, M. Kurian, N. Brandon, C. Diggle; |
| 12.15 | C19.6 Whole genome sequencing as a clinical diagnostic tool for heterogeneous Mendelian disease Jamie M. Ellingford*, S. Barton, S. Bhaskar, S.G. Williams, P.I. Sergouniotis, J. O'Sullivan, J.A. Lamb, R. Perveen, G. Hall, W.G. Newman, P.N. Bishop, S.A. Roberts, S. Bayliss, S.C. Ramsden, A.H. Nemeth, G.C.M. Black; | C20.6 What’s in it for me? A critical analysis of the notion of personal utility in genomic testing Eline M. Bunnik*; | C21.6 Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies. Marcello Niceta*, E. Stellacci, K.W. Gripp, G. Zampino, M. Kousi, M. Anselmi, A. Traversa, A. Ciolfi, D. Stabley, A. Bruselles, V. Caputo, S. Cecchetti, S. Prudente, M.T. Fiorenza, C. Boitani, N. Philip, D. Niyazov, C. Leoni, T. Nakane, K. Keppler-Noreuil, S.R. Braddock, G. Gillessen-Kaesbach, A. Palleschi, P.M. Campeau, B.H.L. Lee, C. Pouponnot, L. Stella, G. Bocchinfuso, N. Katsanis, K. Sol-Church, M. Tartaglia; | C22.6 Evidence for directional dominance on complex traits relating to size and cognition in a wide range of human populations Peter Joshi*, T. Esko, H. Matteson, N. Eklund, I. Gandin, A. Jackson, T. Nutile, C. Schurmann, O. Polasek, J.F. Wilson; | C23.6 PLP1 mutations affecting PLP1/DM20 alternative splicing causes Hypomyelination of Early Myelinating Structures Sietske H. Kevelam*, J.R. Taube, R.M.L. van Spaendonk, E. Bertini, K. Sperle, M. Tarnopolsky, D. Tonduti, E.M. Valente, L. Travaglini, E.A. Sistermans, G. Bernard, C.E. Catsman-Berrevoets, C.D.M. van Karnebeek, J.R. Østergaard, R.L. Friederich, M. Fawzi, J.H. Schieving, M. Tarailo-Graovac, S. Orcesi, M.E. Steenweg, C.G.M. van Berkel, Q. Waisfisz, T.E.M. Abbink, M.S. van der Knaap, G.M. Hobson, N.I. Wolf; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates