Concurrent Sessions C13 - C17 - Monday, June 2 - 13.15 - 14.45 hrs
Room | Gold Room | Space 3+4 | Brown 3 | Brown 1+2 | Space 1 |
C13. Innovation in genetic services | C14. Genetics of complex traits | C15. Novel genes in neurogenetic disorders | C16. Genes and development 2 | C17. Metabolic and mitochondrial disorders | |
13.15 | C13.1 Stratified cancer screening in Europe using genomic information: conclusions and recommendations from the COGS project Thomas H.S. Dent, S. Chowdhury, A. Hall, N. Pashayan, P.D.P. Pharoah, H. Burton; | C14.1 Insights into the genetic architecture of anthropometric traits using whole genome sequence data Eleftheria Zeggini, UK10K consortium; | C15.1 BCAP31 mutations cause a new X-linked syndrome with deafness, dystonia, central hypomyelination and disorganization of the Golgi apparatus P. Cacciagli, J. Sutera-Sardo, A. Borges-Correia, J. Roux, I. Dorboz, J. Desvignes, C. Badens, M. Delepine, M. Lathrop, P. Cau, N. Lévy, N. Girard, P. Sarda, O. Boespflug-Tanguy, Laurent Villard; | C16.1 A congenital disorder of glycosylation, with lymphopenia, neutropenia, and skeletal dysplasia, caused by mutations in the gene encoding phosphoglucomutase 3 (PGM3). Asbjorg Stray-Pedersen, P.H. Backe, H.S. Sorte, L. Mørkrid, N.Y. Chokshi, H. Erichsen, T. Gambin, K.B.P. Elgstøen, M. Bjørås, M. Wlodarski, M. Krüger, S. Jhangiani, D.M. Muzny, A. Patel, K. Raymond, G.S. Sasa, R.A. Krance, C.A. Martinez, S.M. Abraham, C. Speckmann, S. Ehl, P. Hall, L. Forbes, E. Merckoll, J. Westvik, G. Nishimura, C.F. Rustad, T.G. Abrahamsen, A. Rønnestad, L.T. Osnes, T. Egeland, O.K. Rødningen, C.R. Beck, E. Boerwinkle, R.A. Gibbs, J.R. Lupski, J.S. Orange, E. Lausch, I. Hanson; | C17.1 A dominant mutation in CHCHD10 causes neurodegenerative disorder with mitochondrial DNA instability Veronique Paquis-Flucklinger, S. Bannwarth, S. Saadi, A. Chaussenot, E. Genin, K. Fragaki, L. Berg-Alonso, S. Lacas-Gervais, V. Serre, A. Verschueren, C. Rouzier, G. Augé, C. Cochaud, F. Lespinasse, J. Pouget; |
13.30 | C13.2 Expanding access to genetic counseling for hereditary breast and ovarian cancer with telephone delivery: A cluster randomized noninferiority trial Anita Y. Kinney, K.M. Butler, M.D. Schwartz, J.S. Mandelblatt, K.M. Boucher, L.M. Pappas, A. Gammon, W. Kohlmann, S.L. Edwards, A.M. Stroup, K.G. Flores, R.A. Campo; | C14.2 Genome of the Netherlands imputation identifies seven new loci for quantitative ECG traits in meta-analysis of 30,000 samples. Jessica van Setten*, N. Verweij, M.N. Niemeijer, S. Trompet, H. Mbarek, M. Eijgelsheim, J.J. Hottenga, J.A. Kors, E.M. van Leeuwen, P.W. Macfarlane, A. Hofman, B.H. Stricker, J.W. Jukema, C.M. van Duijn, D.I. Boomsma, E.J.C. de Geus, P. van der Harst, P.I.W. de Bakker, A. Isaacs; | C15.2 Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures Emma L. Baple*, R. Maroofian, B. Chioza, M. Izadi, H.E. Cross, S. Al-Turki, K. Barwick, A. Skrzypiec, R. Pawlak, K. Wagner, R. Coblentz, T. Zainy, M.A. Patton, S. Mansour, P. Rich, B. Qualmann, M.E. Hurles, M.M. Kessels, A.H. Crosby; | C16.2 Lenz-Majewski syndrome: disturbed phosphatidylserine metabolism causes intellectual disability and a sclerosing bone dysplasia Sérgio B. Sousa*, D. Jenkins, E. Chanudet, G. Tasseva, E. Bliss, M. Ishida, J. Sá, J.M. Saraiva, A. Barnicoat, R. Scott, A. Calder, D. Wattanasirichaigoon, K. Chrzanowska, M. Simandlová, L. Van Maldergem, A. Hing, M. Silengo, G. Glenn Anderson, J. Docker, M. Ryten, J. Pereira, K. Mills, P. Clayton, P. Stanier, P. Beales, J.E. Vance, G.E. Moore; | C17.2 Decoding Mitochondrial Disorders using Exome Sequencing Laura Kremer*, T. Haack, R. Kopajtich, B. Haberberger, C. Biagosch, T. Wieland, E. Graf, T. Schwarzmayr, T. Strom, P. Freisinger, T. Klopstock, T. Meitinger, W. Sperl, J. Mayr, H. Prokisch; |
13.45 | C13.3 New approaches to bridge the gap between genetics research and primary health care in Ireland Sally Ann Lynch, R. O' Shea, R. O' Shea, J. Turner, A. Ward, M. Byrne, J. Casey; | C14.3 Genome-wide association analysis identifies a new gene involved in salt perception and liking Antonietta Robino, N. Pirastu, C. Mansfield, D. Hwang, D.R. Reed, P. Gasparini; | C15.3 REPS1 is a novel gene of Neurodegeneration with Brain Iron Accumulation Anthony B. Drecourt*, N. Boddaert, I. Desguerre, D. Chretien, A. Munnich, A. Rötig; | C16.3 Homozygous FIBP truncating mutation in a new multiple congenital anomalies syndrome with overgrowth, macrocephaly, Iris coloboma, and learning disabilities Christel Thauvin-Robinet, D. Picot, L. Duplomb-Jego, J. Thevenon, B. Terriat, D. Minot, J. St-Onge, Y. Duffourd, P. Vabres, J. Rivière, L. Faivre; | C17.3 Lentivial vector based hematopoietic stem cell gene therapy mediates sustained expression of functional thymidine phosphorylase in mitochondrial neurogastrointestinal encephalopathy mouse model Rana Yadak*, J. Torres-Torronteras, Y. Cámara, E. Bogaerts, G. de Ruijter, R. Mart?, N. van Til, G. Wagemaker, I. de Coo; |
14.00 | C13.4 Unanticipated results in whole exome study: we've still a lot to learn Cecile Skrzynia, J.M. O'Daniel, D. Marchuk, K. Lee, J.S. Berg, J.P. Evans; | C14.4 ImmunoSeq: Discovery of novel rare variants implicated in autoimmune and inflammatory diseases by targeting regulatory regions in immune cells Andréanne Morin*, T. Kwan, L. Letourneau, K. Tandre, M. Eloranta, V. Arseneault, M. Caron, A. Madore, G. Bourque, A. Montpetit, A. Syvanen, L. Ronnblom, M.G. Lathrop, C. Laprise, T. Pastinen; | C15.4 Interferon type 1 response regulator USP18 is mutated in severe pseudo-TORCH syndrome Marije Meuwissen*, R. Schot, G. Oudesluijs, S. Tinchert, L. van Unen, D. Heijsman, M. Lequin, M. Kros, R. Willemsen, R. Brouwer, W. van IJcken, R. de Coo, J. Dudink, A. Bertoli Avella, F. Verheijen, G. Mancini; | C16.4 Hidden mutations in Cornelia de Lange Syndrome (CdLS) - Limitations of Sanger sequencing in molecular diagnostics Frank J. Kaiser, D. Braunholz, J. Eckhold, J. Pozojevic, K. Wendt, E. Watrin, H. Rieder, G. Gillessen-Kaesbach; | C17.4 Deletion of a distant-acting enhancer near C16ORF91 underlies recessive congenital diarrhea Danit Oz-Levi*, I. bar Joseph, T. Olender, D. Marek-Yagel, A. Alkelai, E.K. Ruzzo, P. Tatarsky, H. Reznik-Wolf, C. Hartman, R. Shamir, R. Kleta, D.B. Goldstein, E. Pras, L.A. Pennacchio, D. Lancet, Y. Anikster; |
14.15 | C13.5 The stepping stone approach towards the Genetics Clinic of the Future D. Schuurbiers, G. Bertier, M. Radstake, P. Bauer, C. Bock, P. Borry, A. Bredenoord, A. Brookes, X. Estivill, R. Hennekam, L. Johnston, H. Kääriäinen, N. Knoers, F. Lescai, R. Maalman, F. Nielsen, G. van Ommen, C. Oosterwijk, J. Paschall, B. Prainsack, J. Saarela, R. Sudbrak, M. Swertz, H. Teare, Terry Vrijenhoek*; | C14.5 Exome array analysis in >30,000 Europeans establishes a functional role for G6PC2 and identifies novel coding variants influencing glycaemic traits Anubha Mahajan, X. Sim, H.J. Ng, A.K. Manning, M.A. Rivas, H.M. Highland, A.E. Locke, N. Grarup, H.K. Im, A.P. Morris, J.B. Meigs, C.M. Lindgren, A.L. Gloyn, on behalf of T2D-GENES and GoT2D consortia; | C15.5 Loss of CTNND2 is associated with borderline intellectual dysfunction in humans and neuronal migration defects in zebrafish W. Hofmeister, D. Nilsson, A. Topa, B. Anderlid, F. Vezzi, V. Wirta, M. Nordenskjöld, E. Syk Lundberg, Anna Lindstrand; | C16.5 RNA Polymerase II activity is affected at the promoter regions in SMC1A-mutated Cornelia de Lange Syndrome cells Linda Mannini, S. Bilodeau, C. Amato, V. Quarantotti, F. Cucco, I.D. Krantz, A. Musio; | C17.5 Genetic testing leads clinical care in neonatal diabetes: a new paradigm Elisa De Franco*, S.E. Flanagan, J.A.L. Houghton, H. Lango Allen, R. Caswell, D.J.G. Mackay, K.I. Temple, S. Ellard, A.T. Hattersley; |
14.30 | C13.6 Teaching Genomic Medicine to Physicians - this is our responsibility as medical geneticists !!! Idit Maya, L. Basel-Vanagaite, E. Taub, A. Koifman, D.M. Behar, R. Tomashov-Matar, R. Sukenik-Halevi, D. Marom, A. Reches, M. Shaohat; | C14.6 Transethnic association study of IBD identifies novel risk loci and shows pervasive sharing of genetic risk factors across populations Jimmy Z. Liu*, S. van Sommeren, R.K. Weersma, C.A. Anderson, The International IBD Genetics Consortium; | C15.6 Novel (ovario)leukodystrophy related to AARS2 mutations Sietske H. Kevelam*, C. Dallabona, D. Diodato, T.B. Haack, L. Wong, G.S. Salomons, E. Baruffini, L. Melchionda, C. Mariotti, T.M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. ?unap, R. Schiffmann, E. Salsano, M. Savoiardo, E. Hamilton, T.E.M. Abbink, N.I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M.S. van der Knaap; | C16.6 In silico and functional characterization of KMT2D/MLL2 missense mutations as causative in Kabuki syndrome Pasquelena De Nittis*, L. Micale, B. Augello, C. Fusco, A. Romano, B. Piccinni, M. Pellico, B. Mandriani, C. Rinaldi, A. Di Lauro, T. Verri, L. Zelante, G. Merla; | C17.6 Safety and efficacy of pravastatin and zoledronate association in Hutchinson-Gilford Progeria: two-years treatment results of a phase II, open label, single arm clinical trial (ClinicalTrials.gov #NCT00731016). Annachiara De Sandre-Giovannoli, S. Sigaudy, P. Bourgeois, S. Miloudi, P. Roll, G. Gorincour, J. Gentet, F. Sabatier, L. Arnaud, N. André, P. Cau, R. Truillet, E. Jouve, J. Micallef, N. Lévy; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates