Concurrent Sessions C01 - C05 - Sunday, June 13 - 13.15 - 14.45 hrs


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


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


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


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


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


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


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