Concurrent Sessions C07 - C12 - Sunday, May 22 - 13.15 - 14.45 hrs

RoomPlenary HallRoom 112Room 117Room 113+114Room 115+116Room 111

C07 Genome Technology in the Clinic

C08 Sharing and Mining Omics Data

C09 Prenatal Decision Making (joint with EMPAG)

C10 Epigenetic mechanisms in development and disease

C11 Neurogenetic and Neuromuscular disorders

C12 Molecular Dysmorphology

13.00

C07.1

Rapid screening of severely ill newborns and infants using whole genome sequencing

Birgit Sikkema-Raddatz, C. van Diemen, W. Kerstjens-Frederikse, T. de Koning, R. Sinke, J. Jongbloed, K. Abbott, J. Herkert, P. Neerincx, G. de Vries, M. Meems-Veldhuis, M. Viel, A. Scheper, K. de Lange, J. Dijkhuis, J. van der Velde, M. de Haan, M. Swertz, K. Bergman, C. van Ravenswaaij-Arts, I. van Langen, R. Sijmons, C. Wijmenga;
Groningen, Netherlands

 

C08.1

Multi-tissue transcriptome analysis reveals disease-relevant and causal links between obesity and gene expression

Taru Tukiainen*, T.H. Pers, F. Aguet, A. Rissanen, K. Ardlie, C.M. Lindgren, K. Pietiläinen, S. Ripatti;
Helsinki, Finland

 

C09.1

Introduction of non-invasive prenatal testing as a first-tier screening test: A survey among Dutch midwives about their role as counselors

L. Martin, J. Gitsels-van der Wal, Lidewij Henneman;
Amsterdam, Netherlands

 

C10.1

Evolving skeletal traits by cis-regulatory changes in bone morphogenetic proteins

Vahan Indjeian;
London, United Kingdom

 

C11.1

Deciphering phenotypic variability of genomic disorders using the 16p11.2 syndromes as a paradigm

Katrin Männik, A.M. Maillard, B. Kolk, K. Popadin, S. Pradervand, M. Kals, B. Rodriguez-Herreros, A. Pain, S. Martin-Brevet, J. Kosmicki, S. Lebon, M. Noukas, 16p11.2 European Consortium, Simons VIP Consortium, M.M. van Haelst, A. Metspalu, N. Katsanis, M.J. Daly, J.S. Beckmann, S. Jacquemont, A. Reymond;
Lausanne, Switzerland

 

C12.1

Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia

Emma M. Wade*, P.B. Daniel, Z.A. Jenkins, A. McInerney-Leo, P. Leo, T. Morgan, M.C. Addor, L.C. Adès, D. Bertola, A. Böhring, E. Carter, T. Cho, R. Conway, H. Duba, E. Fletcher, C.A. Kim, D. Krakow, T. Neuhann, A. Superti-Furga, I. Veenstra-Knol, D. Wieczorek, L.C. Wilson, R.C.M. Hennekam, A.J. Sutherland-Smith, T.M. Strom, A.O.M. Wilkie, M.A. Brown, E.L. Duncan, D.M. Markie, S.P. Robertson;
Dunedin, New Zealand

 

13.15

C07.2

Image analysis of patients with dysmorphic facial features boosts diagnostic yield in exome studies

Martin A. Mensah*, N. Hajjir, N. Ehmke, F. Alisch, C. Ott, R. Flöttmann, M. Spielmann, A. Thorwarth, D. Korinth, P.N. Robinson, S. Köhler, T. Zemojtel, P. Lorini, K. Dathe, S. Dölken, M. Schülke-Gerstenfeld, S. Mundlos, L. Graul-Neumann, D. Horn, P.M. Krawitz;
Berlin, Germany

C08.2

Identification of novel low frequency variants associated with susceptibility with a variety of cancers through the re-analysis of publicly available genome-wide association studies

Marta Guindo-Martínez*, F. Sánchez, S. Bonàs-Guarch, P. Cortés-Sánchez, S. González, C. Díaz, R.M. Badia, J.M. Mercader, D. Torrents;
Barcelona, Spain

C09.2

Should we be worried about children born after PGD for Huntington’s Disease?

Mariska den Heijer, A. Tibben, G. de Wert, W. Dondorp, M. van der Sangen, C. de Die;
Rotterdam, Netherlands

C10.2

Genetic and functional interactions between SOX10, ZEB2 and EDN3/EDNRB during mouse enteric nervous system development

Yuli Watanabe*, L. Stanchina, L. Lecerf, V. Baral, V. Pingault, D. Huylebroeck, N. Bondurand;
Créteil, France

C11.2

The power of protective modifiers in human genetics: Plastin3 and Coronin1C unravel endocytosis as an essential cellular mechanism disturbed in spinal muscular atrophy

Laura Torres Benito*, S.M. Hosseinibarkooie, M. Peters, R. Rastetter, K. Hupperich, A. Hoffmann, N. Mendoza Ferreira, A. Kaczmarek, E. Janzen, T. Lamkaemeyer, C. Guschlbauer, A. Büschges, M. Hammerschmidt, M. Riessland, M.J. Kye, C. Clemen, B. Wirth;
Cologne, Germany

C12.2

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of Goldenhar syndrome within the RA signaling pathway

Marie Berenguer*, E. Lopez, A. Tingaud-Sequeira, S. Marlin, A. Toutain, F. Denoyelle, A. Picard, S. Charron, G. Mathieu, H. de Belvalet, B. Arveiler, P.J. Babin, D. Lacombe, C. Rooryck;
Bordeaux, France

13.30

C07.3

Detection of clinically relevant copy number variants by exome sequencing in a large cohort of genetic disorders

Jayne Y. Hehir-Kwa, R. Pfundt, M. del Rosario, L.E.L.M. Vissers, M.P. Kwint, I.M. Janssen, N. de Leeuw, H.G. Yntema, M.R. Nelen, D. Lugtenberg, E. Kamsteeg, N. Wieskamp, A.P.A. Stegmann, S.J.C. Stevens, R.J.T. Rodenburg, A. Simons, A.R. Mensenkamp, T. Rinne, C. Gilissen, H. Scheffer, J.A. Veltman;
Nijmegen, Netherlands

C08.3

Summary statistic imputation method enables conditional analysis across meta-analysis studies: Application to GIANT height associations from exome-chip & HapMap

Sina Rüeger*, A.R. Wood, E. Marouli, M. Graff, C. Medina-Gomez, K. Sin Lo, GIANT consortium, Z. Kutalik;
Lausanne, Switzerland

C09.3

Informed choice in prenatal genetic testing: the choice between non-invasive and invasive prenatal testing

Sanne L. van der Steen, K.E.M. Diderich, I.M. Bakkeren, M.M.F.C. Knapen, A.T.J.I. Go, A. Tibben, M.I. Srebniak, D. Van Opstal, M.G. Polak, R.J.H. Galjaard, S.R. Riedijk;
Rotterdam, Netherlands

C10.3

Knockout of the zinc finger protein ZNF274 in PWS-specific stem cell neurons activates expression of repressed maternal 15q11.2-q13 transcripts

Maeva Langouet*;
Farmington, United States

C11.3

Mutations in the ICF gene DNMT3B modify the epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy

Marlinde L. van den Boogaard*, R.J.L.F. Lemmers, J. Balog, M. Wohlgemuth, M. Auranen, S. Mitsuhashi, P.J. van der Vliet, K. Straasheijm, R.F.P. van den Akker, M. Kriek, M.E.Y. Laurense-Bik, V. Raz, M.M. van Ostaijen - ten Dam, K.B.M. Hansson, E.L. van der Kooi, S. Kiuru-Enari, B. Udd, M.J.D. van Tol, I. Nishino, R. Tawil, S.J. Tapscott, B.G.M. van Engelen, S.M. van der Maarel;
Leiden, Netherlands

C12.3

A novel gene responsible for Treacher Collins-Franceschetti syndrome

Frédéric Tran Mau Them*, B. Laplace-Buihle, C. Collet, A. Goldenberg, M. Ricquebourg, M. Girard, E. Sanchez, M. Vincent, T. Guignard, C. Blanchet, A. Boland-Auge, M. Bihoreau, J. Deleuze, J. Rivière, J. Laplanche, G. Captier, F. Djouad, D. Geneviève;
Montpellier, France

13.45

C07.4

Ultra-sensitive mosaic mutation detection for clinical applications

Alexander Hoischen, M. Steehouwer, M. Kwint, R. Acuna Hidalgo, E. Mersy, C. Gilissen, J.A. Veltman, J. Shendure, A. Goriely;
Nijmegen, Netherlands

C08.4

RD-Connect: data sharing and analysis for rare disease research within the integrated platform and through GA4GH Beacon and Matchmaker Exchange

Sergi Beltran, D. Piscia, S. Laurie, J. Protasio, A. Papakonstantinou, A. Cañada, J. Fernández, M. Thompson, R. Kaliyaperumal, S. Lair, P. Sernadela, M. Girdea, M. Brudno, A. Blavier, R. Thompson, H. Löchmuller, M. Bellgard, J. Paschall, M. Roos, P. 't Hoen, A. Valencia, D. Salgado, C. Béroud, I. Gut, RD-Connect Consortium;
Barcelona, Spain

C09.4

Attitudes, decision-making and experiences of preimplantation genetic diagnosis (PGD) users

Shachar Zuckerman, S. Gooldin, G. Altarescu;
Jerusalem, Israel

C10.4

Features of FMR1 hypermethylation and CGG instability in FXS pluripotent stem cells

Hagar Mor-Shaked*, M. Avitzour, G. Altarescu, T. geva-eldar, S. Epsztejn-Litman, R. Eiges;
Jerusalem, Israel

C11.4

Homozygous mutations in the sterile alpha motif and leucine zipper containing kinase, ZAK, is associated with congenital myopathy with fiber type disproportion

Martine Tetreault*, E. Harris, N. Vasli, J. Karamchandani, E. Bareke, J. Majewski, N.B. Romero, R. Barresi, E. Malfatti, K. Choquet, M. Dicaire, Y. Shao, A. Topf, E. O'Ferrall, V. Straub, H. Lochmüller, J. Laporte, B. Brais;
Montreal, Canada

C12.4

Loss of a non-coding regulatory element on chromosome 9 in a family with a Cornelia de Lange syndrome (CdLS)-like phenotype

Jelena Pozojevic*, E. Watrin, B. Geidner, I. Parenti, K.S. Wendt, R. Siebert, A. Rakovic, G. Gillessen-Kaesbach, F.J. Kaiser;
Lübeck, Germany

14.00

C07.5

Enrichment of unamplified DNA and long-read SMRT Sequencing to unlock repeat expansion disorders

Y. Tsai, D. Greenberg, Tyson A. Clark;
Menlo Park, United States

C08.5

The "genotype-first" approach and international matchmaking: An efficient approach for disease-causing gene identification in undiagnosed disorders with developmental anomalies

J. Thevenon, P. Kuentz, Ange-Line Bruel*, T. Jouan, C. Poe, M. Chevarin, D. Lehalle, A. Masurel-Paulet, N. Jean-Marçais, S. El Chehadeh-Djebbar, C. Philippe, L. Lambert, A. Roubertie, M. Milh, A. Jaquette, C. Mignot, D. Héron, D. Geneviève, M. Willems, B. Delobel, F. Prieur, M. Gérard, P. Vabres, Y. Duffourd, J. Rivière, C. Thauvin-Robinet, L. Faivre;
Dijon, France

C09.5

What do pregnant women think of prenatal whole-exome sequencing? A cross-cultural comparison

Camilla Richards, S. Dheensa, A. Newson, Z. Deans, S. Shkedi-Rafid, J. Hyett, Z. Richmond, A. Fenwick;
Southampton, United Kingdom

C10.5

Fractal nature of chromatin modules of the human genome

Konstantin Popadin, O. Delaneau, M. Zazhytska, S. Kumar, A. Giovanna, A.R. Gschwind, C. Borel, D. Marbach, D. Lamparter, P. Bucher, S.E. Antonarakis, E.T. Dermitzakis, A. Reymond;
Lausanne, Switzerland

C11.5

Expanding the allelic and locus heterogeneity of tRNA synthetase-related neuromuscular disease

Anthony Antonellis, L. Griffin, S. Oprescu, M. Shy, M. Meisler, J. Kitzman, A. Beg;
Ann Arbor, United States

C12.5

PCGF2 syndrome-distinctive facies, hypotonia, poor feeding, constipation, thin hair, and global developmental delay with deep cerebral white matter changes - due to de novo missense mutations affecting the same conserved proline residue in PCGF2

Peter D. Turnpenny, M. Wright, C. Tysoe, T. van Essen, R. Pfundt, S. White, N. Lotan, L. Carpenter, B. Schaefer, W.K. Chung, H. McLaughlin, L.B. Henderson, A. Roberts, R. Gjergja-Juraški, K. Forbes, A.E. Fry, D.T. Pilz;
Exeter, United Kingdom

14.15

C07.6

Detection of AGG interruptions in FMR1 premutation females by single-molecule sequencing

Simon Ardui*, V. Race, G. Matthijs, J.R. Vermeesch;
Leuven, Belgium

C08.6

DNA.Land: A community-wide platform to study millions of genomes-phenomes

Yaniv Erlich;
New York, United States

C09.6

Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?

Charlotta Ingvoldstad, E. Ternby, O. Axelsson, G. Annerén, P. Lindgren;
Stockholm, Sweden

C10.6

Hotspots of aberrant enhancer activity punctuate the colorectal cancer epigenome

Peter Scacheri, A. Cohen, O. Corradin, J. Luppino, C. Bartels, J. Morrow, S. Mack, G. Dhillon, M. Kalady, J. Willis, R. Keri, N. Berger, S. Markowitz;
Cleveland, United States

C11.6

De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions

N.E. Mencacci, E. Kamsteeg, K. Nakashima, L. R'Bibo, D.S. Lynch, B. Balint, M.A.A.P. Willemsen, M.E. Adams, S. Wiethoff, K. Suzuki, C.H. Davies, J. Ng, E. Meyer, L. Veneziano, P. Giunti, D. Hughes, F.L. Raymond, M. Carecchio, G. Zorzi, N. Nardocci, C. Barzaghi, B. Garavaglia, V. Salpietro, J. Hardy, A.M. Pittman, H. Houlden, M.A. Kurian, H. Kimura, N.W. Wood, K.P. Bhatia, Lisenka E.L.M. Vissers;
Nijmegen, Netherlands

C12.6

Genetic and functional comparison of identical germline and somatic SETBP1 mutations

Rocio Acuna-Hidalgo*, P. Deriziotis, G.M. Findlay, C. Gilissen, International Schinzel-Giedion syndrome collaboration, J.A. Veltman, S.E. Fisher, J. Shendure, A. Hoischen, B.W. van Bon;
Nijmegen, Netherlands

City & Country refer to presenting authors
* indicates Young Investigator Award Candidates