Saturday, June 8, 2013

11.45 - 13.15

Corporate Satellites

14.00 - 15.30

Educational Sessions 1-2

ES1. Performance and future of next generation sequencing  (what's next?)

ES1.1 Sequencing at the Wellcome Trust Sanger Institute in the year 2013!, Michael A. Quail, United Kingdom

ES1.2 Performance and Improvements in Analyzing Next Generation Sequencing Technologies, Mike Snyder, United States

ES2. Prenatal and Preimplantation Genetic Screening

ES2.1 Integration of microarray technology into prenatal diagnosis: the NICHD clinical trial, Ron Wapner, United States

ES2.2 Advances in embryo selection for optimizing IVF outcome, Santiago Munné, United States

14.00 - 15.30

Corporate Satellites

16.00 - 16.30

Opening - Welcome Adresses

16.30 - 18.00

PL1 Opening Plenary Session

Coffee Break

18.30 - 20.00

Plenary Session PL2: What's New?

P2.1 Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram P. Sharma; Aimee L. Fenwick; Mia S. Brockop; Simon J. McGowan; Jacqueline A. Goos; A Jeannette Hoogeboom; Angela F. Brady; Owase Jeelani; Sally Ann Lynch; John B. Mulliken; Dylan J. Murray; Julie M. Phipps; Elizabeth Sweeney; Susan E. Tomkins; Louise C. Wilson; Sophia Bennett; Richard J. Cornall; John Broxholme; Alexander Kanapin; David Johnson; Steven A. Wall; Peter J. van der Spek; Irene M. Mathijssen; Robert E. Maxson; Stephen R. Twigg; Andrew O. Wilkie. , Craniofacial Unit, Oxford University Hospitals NHS Trust, Oxford, United Kingdom

P2.2 C-terminal deletions of the AUTS2 locus cause distinct syndromic features and cognitive impairment

Els Voorhoeve; Gea Beunders; Christelle Golzio; Luba Pardo; Jill Rosenfeld; Michael Talkowski; Ingrid Simonic; Anath Lionel; Sarah Vergult; Robert Pyatt; Jiddeke van de Kamp; Aggie Nieuwint; Marjan Weiss; Patricia Rizzu; Danielle Posthuma; Lucilla Verwer; Hanne Meijers-Heijboer; Björn Menten; Geert Mortier; Stephen Scherer; Evan Eichler; Santhosh Girirajan; Nicholas Katsanis; Alexander Groffen; Erik Sistermans. , VU medical Center, Amsterdam, Netherlands

P2.3 MED4: a suicide gene to explain low penetrance in retinoblastoma patients

Catherine Dehainault; Alexandra Garancher; Laurent Castéra; Isabelle Aerts; François Doz; Livia Lumbroso; Rocio Montes-de-Oca; Geneviève Almouzni; Dominique Stoppa-Lyonnet; Celio Pouponnot; Marion Gauthier-Villars; Claude Houdayer. , université Paris Descartes, Sorbonne Paris Cité, Paris, France

P2.4 Van Maldergem syndrome is caused by defective cadherin receptor-ligand interactions leading to dysregulation of neuroprogenitor cell proliferation and differentiation

Stephen Robertson; Silvia Cappello; Mary Gray; Simona Lange; Melanie Einsiedler; Ingo Burtscher; Zandra Jenkins; Tim Morgan; Nadia Preitner; Victoria Morrison; Nataliya DiDonato; Lionel van Maldergem; Teresa Neuhann; Ruth Newbury-Ecob; Marielle Swinkells; Paulien Terhal; Louise Wilson; Petra Zwijnenburg; Andrew Sutherland-Smith; David Markie; Michael Simpson; Sahar Mansour; Magdalena Goetz. , Dunedin School of Medicine, Dunedin, New Zealand

P2.5 BMN111, a CNP analogue, potential novel investigational therapy for achondroplasia

Laurence Legeai-Mallet; Nabil Kaci; Jeff Peng; Catherine Benoist-Lasselin; Todd Oppeneer; Laurie Tsuruda; Charles A. O' Neill; Federico Di Rocco; Arnold Munnich; Florence Lorget. , INSERM U781-Institut Imagine, Paris, France

P2.6 Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort

Maristella Steri; Antonella Mulas; Magdalena Zoledziewska; Carlo Sidore; Giorgio Pistis; Fabrice Danjou; Eleonora Porcu; Michele Marongiu; Fabio Busonero; Maria Grazia Piras; Monia Lobina; Frederic Reinier; Riccardo Berutti; Maria Francesca Urru; Andrea Angius; Chris M. Jones; David Schlessinger; Goncalo R. Abecasis; Serena Sanna; Francesco Cucca. , Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy

20.00 - 21.30

Opening Networking Mixer