Concurrent Sessions C07 - C12 - Sunday, June 7 - 13.15 - 14.45 hrs
| Room | Clyde Auditorium | Hall 5 | Hall 2 | Lomond Auditorium | Hall 1 | Forth Room |
C07. Reproductive Genetics | C08. Integrative OMICS approaches in common traits | C09. Genetic susceptibility to cancer development | C10. Neurogenetic disorders | C11. Skeletal disorders | C12. Sensory disorders | |
| 13.15 | C07.1 Does paternal imprinting of FOXF1 on 16q24.1 explain maternal UPD(16) phenotype? Avinash V. Dharmadhikari, B. Carofino, J.J. Sun, P. Szafranski, R. Ray, M.J. Justice, M.E. Dickinson, P. Stankiewicz; | C08.1 Context-specific eQTLs identify hormonal effects in obese Finnish men Arthur Ko*, R.M. Cantor, B. Pasaniuc, E. Nikkola, M. Alvarez, A.J. Lusis, M. Civelec, M. Boehnke, F.S. Collins, K.L. Mohlke, J. Kuusisto, M. Laakso, P. Pajukanta; | C09.1 High yield of causative mutations by whole exome sequencing in selected individuals with childhood cancer Marjolijn Jongmans*, E. Waanders, M. Ligtenberg, E. Kamping, P. Hoogerbrugge, M. Oldenrode-Berends, D. Koolen, G. van Santen, M. van Belzen, D. Mordaunt, A. Kattamis, E. de Bont, R. Kuiper, N. Hoogerbrugge; | C10.1 Whole genome sequencing reveals the mutation characteristics in Autism Spectrum Disorder Ryan K. Yuen*, B. Thiruvahindrapuram, D. Merico, S. Walker, K. Tammimies, N. Hoang, C. Chrysler, T. Nalpathamkalam, G. Pellecchia, Y. Liu, M.J. Gazzellone, L. D’Abate, E. Deneault, J.L. Howe, R.S. Liu, A. Thompson, M. Zarrei, M. Uddin, C.R. Marshall, R.H. Ring, L. Zwaigenbaum, P.N. Ray, R. Weksberg, M. Carter, B. Fernandez, W. Roberts, P. Szatmari, S.W. Scherer;
| C11.1 Mutations in a novel dynein-2 light chain, TCTEX1D2, cause Jeune Asphyxiating Thoracic Dystrophy (JATD) with incomplete penetrance Miriam Schmidts*, Y. Ho, C. Cortes, C. Huber, D. Mans, K. Boldt, C.A. Johnson, M. Ueffing, H. Kayserili, D. Krakow, U. Consortium, P.L. Beales, L. Al Gazali, C. Wicking, V. Cormier-Daire, R. Roepman, H. Mitchison, G. Witman; | C12.1 A novel disorder reveals Clathrin Heavy Chain-22 is essential for human pain and touch development Mike S. Nahorski*, L. Al-Gazali, J. Hertecant, D.J. Owen, G. Borner, Y. Chen, C. Benn, O. Carvalho, S.S. Shaikh, A. Phelan, M. Robinson, S. Royle, G.C. Woods; |
| 13.30 | C07.2 Next-gen cytogenetics in prenatal diagnosis: lessons learned with balanced de novo rearrangements Cynthia C. Morton, Z. Ordulu, T. Kammin, C. Hanscom, V. Pillalamarri, J.L. Andujar, B.B. Currall, J.F. Gusella, M.E. Talkowski; | C08.2 Genetic variants affect expression of nearly all genes, but only in a specific context Daria V. Zhernakova*, The BIOS consortium; | C09.2 Integration of somatic and germline exome data to evaluate pathogenicity of rare variants in cancer predisposition genes Shawn Yost, M. Clarke, E. Ruark, N. Rahman; | C10.2 Identification of a common set of microRNAs deregulated in Autism Spectrum disorders L. Nguyen, M. Lepleux, M. Makhlouf, C. Martin, J. Fregeac, A. Phillipe, F. Ferron, B. Gepner, C. Rougeulle, Y. Humeau, Laurence Colleaux*; | C11.2 Mutations in DVL1 cause an osteosclerotic form of Robinow Syndrome Stephen Robertson, K. Bunn, P. Daniel, H. Rosken, A. O'Neill, S. Cameron-Christie, D. Markie, H. Brunner, H. Kunst, A. Lai; | C12.2 Exome sequencing of ataxia-blindness patients identifies atypical Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) presentation and identifies PEX6 as the SCAR3 (MIM#271250) gene Claire Guissart*, E. Acar, H. Topaloglu, B. Leheup, S. Ferdinandusse, M. Koenig; |
| 13.45 | C07.3 Targeted prenatal screening as a successful and fast approach in cases with increased nuchal translucency and/or abnormal ultrasound Pascal Joset, A. Baumer, M. Papic, S. Papuc, M. Zweier, S. Azzarello-Burri, D. Niedrist, L. Gogoll, B. Oneda, K. Steindl, A. Rauch; | C08.3 Pedigree-Associated Genetics and Recent Environment Make Important Contributions to Metabolic Syndrome Traits. Charley Xia*, C. Amador, J. Huffman, H. Trochet, A. Campbell, G. Scotland, D. Porteous, N. Hastie, C. Hayward, V. Vitart, P. Navarro, C.S. Haley; | C09.3 Expanding the mutation spectrum and phenotype of Polymerase Proofreading-Associated Polyposis (PPAP): novel and previously reported POLE variants Maurizio Genuardi, M. Calicchia, M. Ciavarella, B. Riboli, P. Cavalli, M. Castori, P. Grammatico, E. Lucci-Cordisco; | C10.3 Rare variants in GABAA receptor genes in Rolandic epilepsy and related syndromes Eva M. Reinthaler*, B. Dejanovic, D. Lal, M. Semtner, Y. Merkler, A. Reinhold, D.A. Pittrich, C. Hotzy, J. Altmüller, A. Kawalia, M.R. Toliat, EuroEPINOMICS Consortium, GABA receptor study group, P. Nürnberg, H. Lerche, M. Nothnagel, H. Thiele, T. Sander, J.C. Meier, G. Schwarz, B.A. Neubauer, F. Zimprich; | C11.3 Mutations in ZAK cause autosomal recessive split foot malformation in humans and complex hindlimb defects in mice Naeimeh Tayebi*, N. Kakar, M. Spielmann, C. Leettola, S. Kühl, G. Nürnberg,, N. Sowada, J. Altmüller, D. Lupianez, R. Flöttmann,, M. Radenz, H. van Bokhoven, C. Schwartz, H. Thiele, P. Nürnberg, M. Kühl, J. Bowie, C. Kubisch, S. Ahmad, S. Mundlos, G. Borck; | C12.3 Heimler Syndrome is caused by unique hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6 I. Ratbi, K.D. Falkenberg, M. Sommen, N. Al-Sheqaih, S. Guaoua, J.E. Urquhart, K.E. Chandler, S.G. Williams, N.A. Roberts, M. El Alloussi, G.C. Black, S. Ferdinandusse, H. Ramdi, A. Heimler, A. Fryer, S. Lynch, N. Cooper, K. Ong, C.E. Smith, C.F. Inglehearn, A.J. Mighell, J.A. Poulter, M. Tischkowitz, S. Davies, A. Sefiani, A.A. Mironov, W.G. Newman, H.R. Waterham, Guy Van Camp; |
| 14.00 | C07.4 Comprehensive carrier genetic test using next-generation DNA sequencing in infertile couples wishing to conceive trough assisted reproductive technologies (ART) Trinitat M. Alberola, J. Martin, A. Asan, Y. Yuting, B. Rodriguez-Iglesias, J. Jimenez, Y. Xin, C. Simon; | C08.4 Genome-wide study for metabolic phenotypes identifies 62 loci and elucidates the metabolic context of LPA in coronary heart disease Johannes Kettunen, A. Demirkan, H.H.M. Draisma, T. Haller, R. Rawal, A. Vaarhorst, A.J. Kangas, L. Lyytikäinen, M. Pirinen, R. Pool, A. Sarin, P. Soininen, T. Tukiainen, Q. Wang, P. Würtz, N. Amin, M. Beekman, J. Deelen, K. van Dijk, J. Hottenga, E.M. van Leeuwen, T. Lehtimäki, E. Mihailov, R.J. Rose, A.J.M. de Craen, L. Bogl, C. Gieger, M. Kähönen, M. Perola, M.J. Savolainen, A. Verhoeven, J. Viikari, G. Willemsen, D.I. Boomsma, C.M. van Duijn, J. Eriksson, A. Jula, M. Järvelin, J. Kaprio, A. Metspalu, O. Raitakari, V. Salomaa, P.E. Slagboom, M. Waldenberger, M. Ala-Korpela, S. Ripatti; | C09.4 Germline mutations in patients with hereditary breast and ovarian cancer establish ERCC2 as a cancer susceptibility gene. Andreas Rump, A. Benet-Pages, S. Schubert, R. Janavicius, K. Hackmann, E. Betcheva-Krajcir, L. Mackenroth, J. Lehmann, A. Nissen, J. Altmueller, H. Thiele, N. Di Donato, B. Klink, J. Kuhlmann, A. Tzschach, K. Kast, P. Wimberger, E. Holinski-Feder, A. Meindl, S. Emmert, E. Schrock; | C10.4 Hyperexcitability or electrical silencing: de novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S. Syrbe, U. Hedrich, E. Riesch, T. Diémié, S. Müller, R. Møller, B. Maher, L. Hernandez-Hernandez, M. Synofzik, H. Caglayan, M. Arslan, J. Serratosa, M. Nothnagel, P. May, R. Krause, H. Löffler, K. Detert, T. Dorn, H. Vogt, G. Krämer, L. Schöls, P. Mullis, T. Linnankivi, A. Lehesjoki, K. Sterbova, D. Craiu, D. Hoffman-Zacharska, C. Korff, Y. Weber, M. Steinlin, S. Gallati, A. Bertsche, M. Bernhard, A. Merkenschlager, W. Kiess, EuroEPINOMICS RES consortium, M. Gonzalez, S. Züchner, A. Palotie, A. Suls, P. De Jonghe, I. Helbig, S. Biskup, M. Wolff, S. Maljevic, R. Schüle, S. Sisodiya, S. Weckhuysen, H. Lerche, Johannes Lemke; | C11.4 Spondyloenchondrodysplasia: The expanding phenotype of TRAP deficiency Tracy A. Briggs*, G.I. Rice, Y.J. Crow; | C12.4 An in-frame deletion in FOXL1 identifies the first gene causing autosomal dominant otosclerosis N. Abdel-Fatah, A. Mostafa, S.G. Stanton, M.B. Lucas, A. Griffin, V. Booth, C. Rowley, J.E. Besaw, L. Tranebjærg, N. Dahl Rendtorff, K.A. Hodgkinson, L.A. Little, A. Sangamanatha, S. Agrawal, L. Parnes, A. Batten, J. Houston, D. Galutira, T. Benteau, C. Penney, C. Negrijn, Terry-Lynn Young; |
| 14.15 | C07.5 Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene S.M. Elsayed, J.B. Phillips, R. Heller, M. Thoenes, E. Elsobky, G. Nürnberg, P. Nürnberg, S. Seland, I. Ebermann, J. Altmüller, H. Thiele, M. Toliat, F. Körber, X. Hu, Y. Wu, M.S. Zaki, G. Abdel-Salam, J. Gleeson, E. Boltshauser, M. Westerfield, Hanno J. Bolz; | C08.5 Systematic identification of downstream trans-effects for 1,300 known disease associated SNPs Marc Jan Bonder, R. Luijk, BBMRI-NL BIOS Consortium; | C09.5 Tumour risks and genotype-phenotype-proteotype analysis in ~800 patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC and SDHD Katrina A. Andrews*, D.B. Ascher, D.E.V. Pires, L. Vialard, N. Bradshaw, L. Izatt, A. Kumar, F. Lalloo, R. Irving, J. Cook, T. Cole, D. Goudie, M. McConachie, R. Lindsay, C. Perry, J. Adlard, V. Murday, S. Stewart, E. Woodward, E.R. Maher; | C10.5 Cysteine Correction of NOTCH3: exon skipping as a potential therapeutic strategy for CADASIL Julie W. Rutten*, H.G. Dauwerse, D.J.M. Peters, A. Goldfarb, R.R. Klever, H. Venselaar, S. Verbeek, A.M.J.M. van den Maagdenberg, G.B. van Ommen, A.M. Aarstma- Rus, S.A.J. Lesnik Oberstein; | C11.5 Brachyolmia with amelogenesis imperfecta can be caused by a defect in the TGFbeta signaling pathway Agnes M. Bloch-Zupan, M. Huckert, C. Stoetzel, S. Morkmued, V. Laugel-Haushalter, V. Geoffroy, J. Muller, F. Clauss, M.K. Prasad, F. Obry, Y. Alembik, S. Soskin, J. Hemmerlé, J. Weickert, B. Dabovic, D.B. Rifkin, A. Dheedene, E. Boudin, O. Caluseriu, M. Cholette, R. McLeod, R. Antequera, M. Gellé, L. Jacquelin, I. Bailleul-Forestier, M. Manière, W. Van Hul, D. Bertola, P. Dollé, A. Verloes, G. Mortier, H. Dollfus; | C12.5 Submicroscopic deletions at 13q32.1 cause congenital microcoria Lucas Fares Taie*, S. Gerber, A. Tawara, A. Ramirez-Miranda, J. Douet, H. Verdin, A. Guilloux, J. Zenteno, H. Kondo, H. Moisset, B. Passet, K. Yamamoto, M. Iwai, T. Tanaka, Y. Nakamura, W. Kimura, C. Bole-Feysot, M. Vilotte, S. Odent, J. Vilotte, A. Munnich, A. Regnier, N. Chassaing, E. De Baere, I. Raymond-Letron, J. Kaplan, P. Calvas, O. Roche, J. Rozet; |
| 14.30 | C07.6 How to design expanded carrier screening panels? Results of an interview study with European geneticists Davit Chokoshvili, S. Janssens, D. Vears, A. De Paepe, P. Borry; | C08.6 Integrated analysis of human and bacterial genomes in relation to BMI and blood lipid metabolites. Alexandra Zhernakova, M. Bonder, M. Cenit, E. Tigchelaar, J. Dekens, J. Marczynska, F. Imhann, R. Weersma, T. Poon, R. Xavier, D. Gevers, L. Franke, M. Hofker, C. Wijmenga, J. Fu; | C09.6 Germline SMAD9 Mutation Destabilizes PTEN: Exome Sequencing Reveals a Novel Susceptibility Gene For Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas Joanne Ngeow, W. Yu, L. Yehia, C. Eng; | C10.6 De novo deleterious genetic variations target a biological network centered on A? peptide in early-onset Alzheimer disease A. Rovelet-Lecrux, C. Charbonnier, D. Wallon, Gaël Nicolas*, M.N.J. Seaman, C. Pottier, S.Y. Breusegem, P. Prakash Mathur, P. Jenardhanan, K. Le Guennec, A.S. Mukadam, O. Quenez, S. Coutant, S. Rousseau, A. Richard, A. Boland, J. Deleuze, T. Frebourg, D. Hannequin, D. Campion; | C11.6 Pentosan Polysulfate: New Mechanistic Insights and Treatment of the Mucopolysaccharidoses Calogera M. Simonaro, S. Tomatsu, M. Frohbergh, M. Haskins, A. Solyom, E. Schuchman; | C12.6 A molecular network surrounding dysregulated H3K9 di-methylation in PRDM5-associated disease Louise F. Porter*, G.G. Galli, S. Williamson, J. Selley, D. Knight, N. Elcioglu, M. Elcioglu, A. Lund, R. Bonshek, G. Black, F. Manson; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates