| | C01 Next Generation Sequencing
Congress Hall | C02 Clinical Cytogenetics
Room F1+F2+F3 | C03 Complex Diseases
Room F4+F5 | C04 Sensory Disorders and Neurobiology
Room G1+G2 | C05 Skeletal Disorders
Room G3 |
| 13.15 | C01.1 Tracing the derivation of embryonic stem cells from the inner cell mass by single cell RNA-Seq analysis
K. Q. Lao, F. Tang, C. Barbacioru, S. Bao, C. Lee, E. Nordman, X. Wang, M. A. Surani | C02.1 Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
M. H. Willemsen, B. A. Fernandez, C. A. Bacino, E. Gerkes, A. P. M. de Brouwer, R. Pfundt, B. Sikkema-Raddatz, S. W. Scherer, C. R. Marshall, L. Potocki, H. van Bokhoven, T. Kleefstra | C03.1 In-depth metabolic characterization of genetic loci underlying serum-lipids
A. K. Petersen, S. Y. Shin, W. Römisch-Margl, G. Zhai, K. Small, R. Wang-Sattler, E. Grundberg, J. S. Ried, A. Peters, B. Kato, A. Döring, H. E. Wichmann, P. Deloukas, M. Hrabé de Angelis, H. W. Mewes, T. Illig, T. D. Spector, J. Adamski, K. Suhre, N. Soranzo, C. Gieger | C04.1 Identification of novel deafness genes by homozygosity mapping in Dutch families
H. Kremer, J. Oostrik, P. L. M. Huygen, J. A. Veltman, L. H. Hoefsloot, C. W. R. J. Cremers, H. P. M. Kunst, R. J. C. Admiraal, M. Schraders | C05.1 CANT1 mutations in Desbuquois dysplasia are responsible for a defect in proteoglycan synthesis.
C. Huber, A. Rossi, M. Bertoli, M. Fradin, M. Le Merrer, Y. Alanay, L. I. Al Gazali, M. G. E. M. Ausems, P. Bitoun, D. P. Cavalcanti, A. Krebs, G. Mortier, S. P. Robertson, Y. Shafeghati, A. Superti-Furga, A. O. Muda, C. Le Goff, A. Munnich, V. Cormier-Daire |
| 13.30 | C01.2 Variation in transcription factor binding among humans
M. Kasowski, F. Grubert, C. Heffelfinger, M. Hariharan, A. Asabere, S. Waszak, L. Habegger, J. Rozowsky, M. Shi, A. E. Urban, M. Hong, K. J. Karczewski, W. Huber, S. M. Weissman, M. B. Gerstein, J. O. Korbel, M. Snyder | C02.2 Prader-Willi like phenotype in 2pter deletion: a possible imprinted locus.
M. Doco-Fenzy, E. Landais, M. Vincent, A. Schneider, J. Puechberty, M. Girard, M. Tournaire, E. Sanchez, M. Goossens, D. Gaillard, L. Taine, G. Lefort, P. Sarda, B. Leheup, D. Geneviève | C03.2 Identification of novel obesity loci by analysis of genomic structural variants
R. G. Walters, L. J. M. Coin, A. J. de Smith, D. Meyre, I. S. Farooqi, P. Froguel, A. I. F. Blakemore | C04.2 Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutation in C20orf54
D. J. Josifova, P. Green, M. Wiseman, Y. J. Crow, H. Houlden, S. Riphagen, J. Lin, F. Raymond, A. Childs, E. Sheridan, S. Edwards | C05.2 Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) causes Frank-Ter Haar Syndrome
Z. Iqbal, P. Cejudo-Martin, A. De Brouwer, B. Van der Zwaag, P. Ruiz-Lozano, M. Cecilia Scimia, J. D. Lindsey, R. Weinreb, B. Albrecht, A. Megarbane, Y. Alanay, Z. Ben-Neriah, M. Amenduni, R. Artuso, J. A. Veltman, E. Van Beusekom, A. Oudakker, J. Luis Millan, R. Hannekam, B. Hamel, S. A. Courtneidge, H. van Bokhoven |
| 13.45 | C01.3 Genomewide DNA methylation analysis in neurodegenerative disorders
S. Iraola, R. Rabionet, G. Roma, M. Montfort, S. Carbonell, I. Ferrer, X. Estivill | C02.3 2q11.2 is a highly penetrant susceptibility locus for neurocognitive deficit
H. Kilpinen, A. Pittman, M. Storer, J. Dickerson, B. Garg, L. Willatt, J. Rosenfeld, N. Huang, T. Fitzgerald, D. Felik, C. Ogilvie, M. Irving, Y. Shen, B. Wu, R. Pfundt, B. de Vries, L. Peltonen, M. Hurles, J. Barrett, L. Shaffer, C. Shaw-Smith | C03.3 Multiple common genetic variants for coeliac disease influencing immune gene expression
G. Trynka, P. C. A. Dubois, L. Franke, Coeliac Disease Genetics Consortium, R. McManus, D. Barisani, P. Deloukas, J. C. Barrett, P. Saavalainen, D. A. Van Heel, C. Wijmenga | C04.3 The microRNA miR-204 is required for vertebrate eye development
I. Conte, S. Carrella, R. Avellino, M. Karali, R. Marco-Ferreres, P. Bovolenta, S. Banfi | C05.3 PTHLH deletion and point mutations are associated with Brachydactyly type E (BDE)
E. Klopocki, B. P. Hennig, K. Dathe, R. Koll, T. de Ravel, E. Baten, E. Blom, Y. Gillerot, J. F. W. Weigel, G. Krüger, O. Hiort, P. Seemann, S. Mundlos |
| 14.00 | C01.4 Dissecting the regulatory network of p63 in p63-related developmental disorders
J. Zhou, H. van Bokhoven | C02.4 The multiple phenotypes of the recurrent 593 kb, 16p11.2 rearrangements: regulation of adiposity, language impairment and psychiatric symptoms.
S. Jacquemont, R. G. Walters, S. Bouquillon, F. Zufferey, A. Valsesia, D. Martinet, L. Hippolyte, J. Andrieux, B. Delobel, A. I. F. Blakemore, P. Froguel, J. S. Beckmann | C03.4 Genetic variation in 22 loci influences QRS complex duration
A. Isaacs, N. Sotoodenhia, P. de Bakker, M. Dörr, C. Newton-Cheh, I. Nolte, P. van der Harst, M. Müller, M. Eijgelsheim, A. Alonso, A. Hicks, S. Padmanabhan, C. Hayward, A. Smith, O. Polasek, S. Giovannone, I. Rudan, J. F. Wilson, P. Pramstaller, D. Siscovick, T. Wang, V. Gudnason, C. M. van Duijn, S. B. Felix, G. I. Fishman, Y. Jamshidi, B. Stricker, N. J. Samani, S. Kääb, D. E. Arking, The QRS-GWAS Consortium | C04.4 Phenotypic modifiers of DJ1
S. Jain, P. Heutink | C05.4 Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
G. R. Mortier, M. Simon, A. Dheedene, Y. Alanay, E. Mihci, L. Rifai, A. Sefiani, Y. van Bever, M. Meradji, A. Superti-Furga, J. Hellemans |
| 14.15 | C01.5 Next generation sequencing-based mRNA profiling of total blood in a large human cohort
P. A. C. 't Hoen, J. T. den Dunnen, E. J. C. de Geus, D. I. Boomsma, J. J. Hottenga, B. W. J. H. Penninx, G. J. B. van Ommen | C02.5 Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13
C. Le Caignec, B. Isidor, O. Pichon, R. Redon, D. Day-Salvatore, A. Hamel, L. Kjellén, C. Kraus, J. Leroy, G. Mortier, A. Rauch, A. Verloes, A. David | C03.5 A genome-wide association scan in Sardinians reveals a novel gene associated with multiple sclerosis
S. Sanna, M. Pitzalis, M. Zoledziewska, I. Zara, C. Sidore, R. Murru, M. B. Whalen, F. Busonero, A. Maschio, G. Costa, M. Pugliatti, S. Traccis, A. Angius, M. Melis, G. Rosati, G. R. Abecasis, M. Uda, M. G. Marrosu, D. Schlessinger, F. Cucca | C04.5 MiR-135b regulates two transcriptional cofactors, PC4 and Psip1, in the mammalian inner ear, identified using an integrative transcriptomics and proteomic approach
T. Elkan, R. Hertzano, I. Ulitsky, R. Elkon, M. Irmler, R. Shamir, J. Beckers, K. B. Avraham | C05.5 Copy Number and Sequence Variants in FREM1 are Associated With an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
L. E. L. M. Vissers, T. C. Cox, I. M. Janssen, K. M. Short, I. Smyth, F. Jehee, G. Yagnik, S. A. Boyadjiev, C. Marcelis, P. J. Anderson, M. L. Cunningham, M. Passos-Bueno, J. A. Veltman, M. F. Buckley, T. Roscioli |
| 14.30 | C01.6 mRNA-Seq transcriptome analysis of human trisomy 21 using monozygotic twins
A. Letourneau, S. B. Montgomery, C. Borel, E. Migliavacca, D. Robyr, L. Farinelli, S. Deutsch, S. Dahoun-Hadorn, E. T. Dermitzakis, S. E. Antonarakis | C02.6 SHOX duplications are associated with type I Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome
M. Miozzo, C. Gervasini, F. Grati, F. Lalatta, S. De Toffol, B. Gentilin, P. Colapietro, M. Silvia, G. Frontino, L. Fedele, B. Dallapiccola, L. Larizza | C03.6 Genome-wide association scan reveals major susceptibility locus in IL28B for both chronic Hepatitis C and for treatment failure
Z. Kutalik, A. Rauch, P. Descombes, T. Cai, J. di Iulio, T. Mueller, M. Bochud, M. Battegay, J. Borovicka, S. Colombo, A. Cerny, J. Dufour, H. Furrer, M. Heim, B. Hirschel, R. Malinverni, D. Moradpour, B. Müllhaupt, A. Witteck, J. S. Beckmann, T. Berg, S. Bergmann, F. Negro, A. Telenti, P. Bochud | C04.6 Olfactory Expression of Mutant A30P alpha-Synuclein in Conditional Mouse Brain: Implications for Early Stage of Parkinson's Disease
S. Nuber, E. Petrasch-Parwez, O. Arias-Carrion, C. Wurst, F. N. Gellerich, Z. Gizatullina, M. Fendt, H. Nguyen, S. von Hörsten, P. Teismann, J. B. Schulz, T. P. Velavan, T. Schmidt, J. Boy, I. Schmitt, G. U. Höglinger, J. Winkler, O. Riess | C05.6 Cranioectodermal dysplasia is a ciliary disorder caused by defects in the IFT122 gene
J. Walczak-Sztulpa, J. Eggenschwiler, D. Osborn, D. A. Brown, F. Emma, C. Klingenberg, R. C. Hennekam, G. Torre, M. Garshasbi, A. Tzschach, M. Szczepanska, M. Krawczynski, J. Zachwieja, D. Zwolinska, P. Beales, H. Ropers, A. Latos-Bielenska, A. W. Kuss |
