Concurrent Sessions C01 - C06 - Saturday, May 21 - 18.30 - 20.00 hrs
| Room | Plenary Hall | Room 112 | Room 117 | Room 113+114 | Room 115+116 | Room 111 |
| C01 Reproductive Genetics | C02 Intellectual Disability | C03 Mutational Mechanisms | C04 Complex Traits | C05 Cancer Predisposition | C06 Carrier and Newborn Screening (joint with EMPAG) | |
| 18.30 | C01.1 Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven Kris Van Den Bogaert, E. Dimitriadou, C. Melotte, S. Debrock, K. Devriendt, T. de Ravel, T. D’Hooghe, J.R. Vermeesch;
| C02.1 FRRS1L Mutations link intellectual disability to altered priming of AMPA-receptor biogenesis A. Brechet, R. Buchert, J. Schwenk, S. Boudkkazi, G. Zolles, K. Siquier-Pernet, D. Loreth, I. Schaber, A. Saadi, C. Bole-Feysot, P. Nitschke, A. Reis, H. Sticht, N. Al-Sanna'a, A. Rolfs, A. Kulik, U. Schulte, R. Abou-Jamra, Laurence Colleaux, B. Fakler;
| C03.1 Copy number variation morbidity map of congenital limb malformations reveals that the majority of pathogenic variants affect non-coding regulatory elements Malte Spielmann, R. Flöttmann, B. Kragsteen, M. Socha, S. Geuer, L. Allou, A. Sowi?ska-Seidler, J. Wagner, A. Jamsheer, B. Oehl-Jaschkowitz, D. de Silva, I. Kurth, I. Maya, F. Santos, W. Hülsemann, D. Horn, S. Mundlos;
| C04.1 More than 1500 genetic variants regulate haematopoiesis in humans revealing novel genes and pathways W.J. Astle, H. Elding, Tao Jiang*, D. Allen, D. Ruklisa, H. Bouman, F. Riveros-Mckay, A.L. Mann, D. Mead, M.A. Kostadima, J.J. Lambourne, S. Sivapalaratnam, K. Downes, K. Kundu, L. Bomba, J.R. Bradley, L.C. Daugherty, O. Delaneau, S. Garner, L. Grassi, J.A. Guerrero, M. Haimel, M. Kamat, B. Kim, A. Mandoli, J. Marchini, S. Meacham, K. Megy, J. O’Connell, R. Petersen, N. Sharifi, S.M. Sheard, J.R. Staley, S. Tuna, M.v.d. Ent, S. Wang, E. Wheeler, S.P. Wilder, V. Iotchkova, C. Moore, J. Sambrook, E. Di Angelantonio, S. Kaptoge, T.W. Kuijpers, M. Frontini, J. Danesh, D.J. Roberts, W.H. Ouwehand, A.S. Butterworth, N. Soranzo; | C05.1 Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors Barbara Rivera*, T. Gayden, J. Carrot-Zhang, J. Nadaf, T. Boshari, D. Faury, M. Zeinieh, R. Blanc, D. Burk, S. Fahiminiya, E. Bareke, U. Schüller, C. Monoranu, R. Sträter, K. Kerl, T. Niederstadt, G. Kurlemann, B. Ellezam, Z. Michalak, M. Thom, P. Lockhart, R. Leventer, M. Ohm, D. MacGregor, D. Jones, J. Karamchandani, C. Greenwood, A. Berghuis, S. Bens, R. Siebert, M. Zakrzewska, P. Liberski, K. Zakrzewski, S. Sisodiya, W. Paulus, S. Albrecht, M. Hasselblatt, N. Jabado, W.D. Foulkes, J. Majewski;
| C06.1 Responsible implementation of expanded carrier screening - Recommendations of the European Society of Human Genetics L. Henneman, P. Borry, D. Chokoshvili, M.C. Cornel, C.G. Van El, F. Forzano, A. Hall, H.C. Howard, S. Janssens, H. Kayserili, P. Lakeman, A. Lucassen, S.A. Metcalfe, L. Vidmar, G. De Wert, W.J. Dondorp, Borut Peterlin;
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| 18.45 | C01.2 Mosaic embryos can achieve good IVF success rates Ruth Morales, B. Lledó, J. Ortiz, H. Blanca, J. Llácer, R. Bernabeu; | C02.2 PIGG: a novel gene causing intellectual disability, seizures and hypotonia Periklis Makrythanasis, M. Kato, M. Zaki, H. Saitsu, K. Nakamura, F.A. Santoni, S. Miyatake, M. Nakashima, M.Y. Issa, M. Guipponi, A. Letourneau, C. Logan, N. Roberts, D.A. Parry, C.A. Johnson, N. Matsumoto, H. Hamamy, E. Sheridan, T. Kinoshita, S.E. Antonarakis, Y. Murakami; | C03.2 Microhomology underlies the formation of balanced germline human translocations D. Nilsson, M. Pettersson, P. Gustavsson, A. Förster, W. Hofmeister, J. Wincent, V. Zachariadis, B. Anderlid, A. Nordgren, O. Mäkitie, V. Wirta, F. Vezzi, J.R. Lupski, M. Nordenskjöld, E. Syk Lundberg, C.M.B. Carvalho, Anna Lindstrand; | C04.2 Genome-wide association study identifies 15 novel genetic variants contributing to variation in cytokine levels Vinod Kumar, Y. Li, M. Oosting, I. Ricaño-Ponce, S. Smeekens, M. Jaeger, L. Joosten, C. Wijmenga, M. Netea; | C05.2 Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression J. Smith, M. Read, R. Brown, J. Hoffman, B. Bradshaw, C. Campbell, T. Cole, J. Dieguez Navas, F. Eatock, J. Gundara, E. Lian, D. McMullan, N.V. Morgan, L. Mulligan, P. Morrison, M. Robledo, M. Simpson, V. Smith, S. Stewart, R. Trembath, S. Sidhu, F. Togneri, N. Wake, Y. Wallis, J.C. Watkinson, E.R. Maher, C. McCabe, Emma R. Woodward; | C06.2 Setting the scope of screening: ethical reflections on the offer of reproductive choice Greg Stapleton; |
| 19.00 | C01.3 Gonadic mosaicism and prenatal diagnosis options: insights from retinoblastoma Claude Houdayer, C. Dehainault, L. Golmard, A. Charpin, A. Laugé, I. Aerts, N. Cassoux, G.A. Millot, D. Stoppa Lyonnet, M. Gauthier Villars; | C02.3 De novo mutations in Histone 3 Family 3B are associated with a severe neurodegenerative disorder and brain atrophy Aida Telegrafi, E.F. Joiner, M.T. Cho, K. Retterer, J.L. Schuette, J.W. Innis, B. Fregeau, E.H. Sherr, A. Pizzino, A. Vanderver, S. Lüttgen, J. Denecke, T.M. Strom, D. Lessel, J. Juusola, K.G. Monaghan, W.K. Chung; | C03.3 A distinct class of chromoanagenesis events characterized by focal copy number gains H. Masset, Matthew S. Hestand, H. Van Esch, P. Kleinfinger, J. Plaisancié, A. Afenjar, R. Molignier, C. Schluth-Bolard, D. Sanlaville, J.R. Vermeesch; | C04.3 Genetic variants regulate adaptive and innate immune cell levels in the healthy Dutch population Raul Aguirre-Gamboa*, H.J.P.M. Koenen, I. Ricano-Ponce, R.G. van der Molen, E. van Rijssen,, B. van Cranenbroek, V. MagadiGopalaiah, C. Wijmenga, M. Netea, I. Joosten, Y. Li; | C05.3 Refining the clinical classification of mismatch repair gene variants Maurizio Genuardi, Rossella Tricarico, M. Kasela, C. Mareni, B.A. Thompson, A. Drouet, G. Gorelli, F. Crucianelli, L. Staderini, V. Ingrosso, J. Kantelinen, L. Papi, M. De Angioletti, M. Berardi, D. Turchetti, A. Martins, A.B. Spurdle; | C06.3 Factors for successful implementation of population-based expanded carrier screening: what can we learn from existing initiatives? Kim C.A. Holtkamp, I.B. Mathijssen, P. Lakeman, M.C. Van Maarle, W.J. Dondorp, L. Henneman, M.C. Cornel; |
| 19.15 | C01.4 Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage stage chimaerism and mixoploidy Aspasia Destouni*, M. Zamani Esteki*, M. Catteeuw, O. Tšuiko, E. Dimitriadou, K. Smits, A. Kurg, A. Salumets, A. Van Soom, T. Voet**, J.R. Vermeesch**, *Joint first-authors, ** Co-senior authors; | C02.4 Autosomal recessive mutations of the neuron specific ?3B subunit of clathrin-associated adaptor protein complex 3 (AP3B2) cause an early onset epileptic encephalopathy with optic atrophy Mirna Assoum, C. Philippe, B. Isidor, L. Perrin, P. Makrythanasis, N. Sondheimer, C. Paris, S. Antonarakis, H. Hamamy, T. Jouan, Y. Duffourd, M. Milh, S. Auvin, K. Mireskandari, J. Rivière, L. Faivre, J. Thevenon; | C03.4 Tissue-specific mutation accumulation in human adult stem cells during life F. Blokzijl, Joep de Ligt*, M. Jager, V. Sasselli, S. Roerink, N. Sasaki, M. Huch, S. Boymans, P. Prins, I.J. Nijman, I. Martincorena, M. Mokry, C.L. Wiegerinck, S. Middendorp, E.E.S. Nieuwenhuis, M.M.A. Verstegen, L.J.W. van der Laan, J. de Jonge, J.N.M. IJzermans, R.G. Vries, M. van de Wetering, M.R. Stratton, H. Clevers, E. Cuppen, R. van Boxtel; | C04.4 Capture Hi-C reveals a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23 Amanda J. McGovern*, P. Martin, S. Schoenfelder, P. Fraser, S. Eyre, G. Orozco; | C05.4 Chromosomal mosaicism in peripheral blood and cancer risk in Fanconi Anemia Judith Reina*, R. Pujol, M. López-Sánchez, B. Rodríguez-Santiago, M. Aza-Carmona, L.A. Pérez-Jurado, J. Surrallés; | C06.4 Advantages of expanded universal carrier screening: What is at stake? Sanne van der Hout, K. Holtkamp, L. Henneman, G. De Wert, W. Dondorp; |
| 19.30 | C01.5 Differential expression of parental alleles of BRCA1 in human preimplantation embryos Pinar Tulay, A. Doshi, P. Serhal, S.B. SenGupta; | C02.5 De novo germline mutations of mTOR pathway genes RHEB and RAC1 cause developmental phenotypes with alterations in brain size Margot R.F. Reijnders*, M. Kousi, G.M. van Woerden, G.M. Mancini, T. van Essen, C. Marcelis, M. Proietti-Onori, M. van Gastel, E. Smeets, S.J.C. Stevens, C. Gilissen, R. Pfundt, P.L. Tan, T. Kleefstra, Y. Elgersma, N. Katsanis, H.G. Brunner; | C03.5 Exome-wide evaluation of splice-disrupting mutations in 4,294 families with severe developmental disorders Jenny Lord*, J. McRae, M. Hurles, on behalf of the Deciphering Developmental Disorders study; | C04.5 Variants from the exome chip and metabolic pathways of type 2 diabetes Susanne Jäger*, S. Wahl, J. Kröger, P. Hoffmann, A. Floegel, T. Pischon, J. Adamski, M. Müller-Nurasyid, M. Waldenberger, K. Strauch, A. Peters, C. Gieger, K. Suhre, H. Grallert, H. Boeing, M.B. Schulze, K. Meidtner; | C05.5 Parent inheritance of RB1 hypomorphic mutations and somatic mosaicism can explain low penetrance in retinoblastoma Valentina Imperatore*, A. Pinto, S. Amitrano, S. Somma, M. Bruttini, T. Hadjistilianou, S. De Francesco, P. Toti, E. Gusson, M. Mencarelli, F. Mari, A. Renieri, F. Ariani; | C06.5 Clinical utility of expanded carrier screening: reproductive behaviors of at-risk couples C. Ghiossi, K. Ready, C. Lieber, J.D. Goldberg, I.S. Haque, Gabriel A. Lazarin, K.K. Wong; |
| 19.45 | C01.6 Novel autosomal genes linked with male infertility Digumarthi V.S. Sudhakar*, R. Phanindranath, R. Singh, N.J. Gupta, M. Deenadayal, Y. Sharma, K. Thangaraj; | C02.6 De novo germline mutations in exon 5 of PPM1D cause intellectual disability Sandra Jansen*, R. Pfundt, R. Brough, J.C. Herkert, E.J. Marco, M.H. Willemsen, T. Kleefstra, J.A. Veltman, C.J. Lord, L.E.L.M. Vissers, B.B.A. De Vries; | C03.6 Proteome-wide expression and turnover analysis quantify genetic impact in Down Syndrome Yansheng Liu, C. Borel, L. Li, T. Mueller, P. Boersema, P. Germain, G. Testa, A. Beyer, S. Antonarakis, R. Aebersold; | C04.6 StatinGWAS: A genome-wide association study demonstrating the research potential of nationwide prescription drug registries Pyry Helkkula*, I. Surakka, P. Häppölä, V. Salomaa, A. Palotie, M.J. Daly, S. Ripatti; | C05.6 Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases Isabel Spier, D. Drichel, M. Kerick, J. Kirfel, S. Horpaopan, A. Laner, S. Holzapfel, S. Peters, R. Adam, B. Zhao, T. Becker, R.P. Lifton, S. Perner, P. Hoffmann, G. Kristiansen, B. Timmermann, M.M. Nöthen, E. Holinski-Feder, M.R. Schweiger, S. Aretz; | C06.6 Genetic counseling in an oocyte donation program: knowledge, satisfaction and psychological impact of the expanded carrier screening Josep Pla, E. Clua, M. Boada, B. Coroleu, P.N. Barri, A. Veiga, X. Estivill, G. Lasheras, A. Abulí; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates