Concurrent Sessions C19 - C23 - Tuesday, June 9 - 11.00 - 12.30 hrs

RoomClyde AuditoriumHall 2Lomond Auditorium
Hall 1Forth Room

C19. Diagnostic NGS

C20. Current issues in genet(h)ics

C21. Multiple congenital anomaly syndromes

C22. Statistical genetics and bioinformatics

C23. Movement and motor disorders



Large-scale, high-throughput testing of cancer predisposition genes using the TruSight Cancer panel

Shazia Mahamdallie, E. Ruark, A. Fowler, M. Münz, V. Cloke, A. George, S. Seal, G. Lunter, N. Rahman, Mainstreaming Cancer Genetics Programme;
London, United Kingdom


Ethical and legal challenges of genomic cloud computing

Edward S. Dove, M. Phillips, Y. Joly, A. Tassé, B.M. Knoppers;
Montreal, Canada


Recurrent de novo p.Arg83Cys mutations in the acetyl CoA binding site of NAA10 are associated with atypical Cornelia de Lange syndrome

Morad Ansari, N. Akawi, H. Bengani, A.M. Meynert, I. Parenti, J. Pozojevic, D.C. Soares, C. Martin, A. Blatnik, H. Kayserili, S. Avci, S. Joss, K. Tatton-Brown, F. Elmslie, M. Suri, S. Mansour, K.S. Wendt, E. Watrin, F.J. Kaiser, M.S. Taylor, M.E. Hurles, D.R. FitzPatrick;
Edinburgh, United Kingdom


The secrets of GWAS are written in the reads

Claes Wadelius, M. Cavalli, G. Pan, H. Nord, O. Wallerman, E. Wallén Arzt, O. Berggren, I. Elvers, M. Eloranta, L. Rönnblom, K. Lindblad Toh;
Uppsala, Sweden


TBK1 mutations cause amyotrophic lateral sclerosis and fronto-temporal dementia

Thomas Wieland*, A. Freischmidt, B. Richter, W. Ruf, V. Schäffer, K. Müller, N. Marroquin, F. Nordin, A. Hübers, P. Weydt, S. Pinto, R. Press, J. Dorst, E. Graf, T. Meyer, A.S. Winkler, J. Winkelmann, M. de Carvalho, D.R. Thal, M. Otto, T. Brännström, A.E. Volk, P. Sarvari, D.Y.R. Stainier, P. Kursula, K.M. Danzer, P. Lichtner, I. Dikic, T. Meitinger, A.C. Ludolph, P.M. Andersen, J.H. Weishaupt, T.M. Strom;
Neuherberg, Germany



Increasing accessibility and affordability of genetic testing through targeted clinical exome sequencing

Stephen Abbs, H. Martin, K. Brugger, I. Delon, O. Spasic-Boskovic, G. Sagoo, F. Rodger, R. Littleboy, S. Mehta, S. Park, R. Armstrong, G. Woods, S. Holden, J. Campbell, C. Bennett, R. Sandford, E. Maher;
Cambridge, United Kingdom


In utero treatment of Down syndrome - proceed with care

Guido M.W.R. de Wert, W.J. Dondorp;
Maastricht, Netherlands


STAG1 haploinsufficiency is responsible for a new cohesinopathy with intellectual disability and characteristic facial features in four unrelated individuals

Daphné Lehalle, A. Masurel-Paulet, A. Mosca-Boidron, M. Deardorff, H. Olivie, J. Thevenon, M. Willemsen, C. Zweier, A. Rauch, C. Gilissen, P. Callier, C. Thauvin-Robinet, L. Faivre;
Dijon, France


Optimal ancestry-matched imputation of GWAS association summary statistics using large reference panel of sequenced individuals

Sina Rüeger, Z. Kutalik;
Lausanne, Switzerland


PMPCA Mutations cause Abnormal Mitochondrial Protein Processing in Patients with Non-Progressive Cerebellar Ataxia

R. Jobling, M. Assoum, O. Gakh, S. Blaser, J.A. Raiman, C. Mignot, E. Roze, A. Dürr, A. Brice, N. Lévy, C. Prasad, T. Paton, A.D. Paterson, N. Roslin, C.R. Marshall, J. Desvignes, N. Roëckel-Trevisiol, S. Scherer, G.A. Rouleau, A. Mégarbané, G. Isaya, Valerie Delague, G. Yoon;
Marseille, France



The RD-Connect platform includes the first 360 analysed exomes linked to phenotypic data and integrates user-friendly tools for rare disease variant prioritization

D. Piscia, Steven Laurie*, A. Cañada, J. Fernández, C. Kingswood, J. Desvignes, M. Thompson, R. Kaliyaperumal, E. van der Horst, S. Lair, P. Sernadela, A. Topf, I. Zaharieva, M. Girdea, M. Brudno, A. Blavier, R. Thompson, H. Lochmüller, M. Bellgard, J. Paschall, P. Lopes, J. Oliveira, M. Roos, P. 't Hoen, V. de la Torre, A. Valencia, D. Salgado, C. Béroud, S. Beltran, I. Gut;
Barcelona, Spain


Should children’s carrier results be reported following diagnostic WES/WGS?

Danya F. Vears*, K. Sénécal, J. Massie, P. Borry;
Leuven, Belgium


Wiedemann-Steiner Syndrome: Expanding the phenotypic spectrum associated with KMT2A (MLL) mutations

Wendy D. Jones*, M. McEntagart, C. Deshpande, T. Deciphering Developmental Disorders Project, M.A. Simpson, M. Hurles, J. Barrett;
Cambridge, United Kingdom


A novel method and software tool for genome-wide multi-phenotype analysis of rare variants

Marika Kaakinen*, R. Mägi, K. Fischer, M. Järvelin, A.P. Morris, I. Prokopenko;
London, United Kingdom


Dominance and recessiveness, two faces of the same coin? Illustration with two new genes in autosomal dominant spinocerebellar degenerations

M. Coutelier, A. Durr, L. Burglen, C. Goizet, F. Habarou, D. Rodriguez, S. Morais, J. Konop, S. Chantot-Bastaraud, C. Rougeot, I. Alonso, C. Tallaksen, R. Schule, M. Janin, M. Cournelle, P. Coutinho, M. Milh, A. Toutain, A. Afenjar, S. Zuchner, G. Rouleau, G. Nicholson, J. Saudubray, F. Darios, J. Leal de Loureiro, D. Héron, C. Ottolenghi, F. Mochel, A. Brice, G. Stevanin;
Paris, France



Copy Number Analysis using Exon-level aCGH and Exome Sequencing in over 3,000 Parent-Offspring Trios from the Deciphering Developmental Disorders Project

Tomas W. Fitzgerald*, J. McRae, D. de Vries, M. Hurles;
Cambridge, United Kingdom


Informed consent for whole exome sequencing in pediatric disease diagnostics: parental decision-making processes, their ethical relevance and implications for policy development

Candice Cornelis*, M. van Summeren, I. Bolt, A. Tibben, W. Dondorp, M. van Haelst, A. Bredenoord, M. Düwell, N. Knoers;
Utrecht, Netherlands


Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia via a maxillary to mandibular transformation

Chris T. Gordon, N. Weaver, R. Zechi-Ceide, E. Madsen, A. Tavares, M. Oufadem, Y. Kurihara, I. Adameyko, A. Picard, S. Breton, S. Pierrot, M. Biosse-Duplan, N. Voisin, C. Masson, C. Bole-Feysot, P. Nitschké, M. Delrue, D. Lacombe, M. Guion-Almeida, P. Moura, D. Garib, A. Munnich, P. Ernfors, R. Hufnagel, R. Hopkin, H. Kurihara, H. Saal, D. Weaver, N. Katsanis, S. Lyonnet, C. Golzio, D. Clouthier, J. Amiel;
Paris, France


The Exomiser suite for exome prioritization of human disease genes

Damian Smedley, J. Jacobsen, S. Kohler, A. Oellrich, K. Wang, C. Mungall, N. Washington, S. Bauer, D. Seelow, P. Krawitz, C. Gilissen, M. Haendel, S.E. Lewis, P.N. Robinson;
Cambridge, United Kingdom


Homozygous truncating mutations in WDR73 cause a severe nephrocerebellar syndrome, part of the Galloway Mowat syndrome spectrum

Emma L. Baple*, R. Jinks, E. Puffenberger, B. Harding, P. Crino, A. Fogo, O. Wenger, H. Wang, B. Xin, A. Koehler, M. McGlincy, L. Tran, M. Provencher, J. Smith, S. Al Turki, B. Chioza, R. Maroofian, G. Harlalka, M. Hurles, S. Gerety, H. Cross, A. Heaps, M. Morton, L. Stempak, F. Hildebrandt, C. Sadowski, J. Zaritsky, K. Campellone, H. Morton, K. Strauss, A.H. Crosby;
Southampton, United Kingdom



Small exonic CNVs as causes of primary immunodeficiencies

Asbjørg Stray-Pedersen, H.S. Sorte, T. Gambin, P.S. Samarakoon, S. Gu, L.R. Forbes, I. Chinn, Z.H.C. Akdemir, O.K. Rødningen, B. Yuan, P.M. Boone, A. Patel, S.J. Penney, W. Wiszniewski, S.N. Jhangiani, D. Muzny, R.A. Gibbs, R. Lyle, J.S. Orange, J.R. Lupski;
Houston, United States


A Human Rights Approach to International Data Sharing?

Bartha Maria Knoppers, E. Dove;
Montreal, Canada


Mutations in transcription factor ZBTB20 cause tall stature, macrocephaly, cognitive deficits, diabetes, progressive muscle wasting and deafness

Viviana Cordeddu*, B. Redeker, E. Stellacci, A. Jongejan, A. Fragale, T. Bradley, M. Anselmi, A. Ciolfi, S. Cecchetti, V. Muto, L. Bernardini, M. Azage, D. Carvalho, A. Espay, A. Male, A. Molin, R. Posmyk, C. Battisti, A. Casertano, D. Melis, A. van Kampen, F. Baas, M. Mannnens, G. Bocchinfuso, L. Stella, M. Tartaglia, R. Hennekam;
Rome, Italy


Allele specific expression reveals common and rare regulatory variation acting in human substantia nigra and putamen

Karishma D'Sa*, A. Ramasamy*, S. Guelfi*, J. Vandrovcova, J.A. Botía, D. Trabzuni, J.R. Gibbs, C. Smith, M. Matarin, V. Varghese, P. Forabosco, The UK Brain Expression Consortium (UKBEC), J. Hardy, M.E. Weale, M. Ryten;
London, United Kingdom


Mutations in PDE10A, resulting in a loss of PDE10A activity cause a hyperkinetic movement disorder in humans and in a mouse model.

Eamonn G. Sheridan, R. Hinttala, J. Uusimaa, M. Kurian, N. Brandon, C. Diggle;
Leeds, United Kingdom



Whole genome sequencing as a clinical diagnostic tool for heterogeneous Mendelian disease

Jamie M. Ellingford*, S. Barton, S. Bhaskar, S.G. Williams, P.I. Sergouniotis, J. O'Sullivan, J.A. Lamb, R. Perveen, G. Hall, W.G. Newman, P.N. Bishop, S.A. Roberts, S. Bayliss, S.C. Ramsden, A.H. Nemeth, G.C.M. Black;
Manchester, United Kingdom


What’s in it for me? A critical analysis of the notion of personal utility in genomic testing

Eline M. Bunnik*;
Rotterdam, Netherlands


Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.

Marcello Niceta*, E. Stellacci, K.W. Gripp, G. Zampino, M. Kousi, M. Anselmi, A. Traversa, A. Ciolfi, D. Stabley, A. Bruselles, V. Caputo, S. Cecchetti, S. Prudente, M.T. Fiorenza, C. Boitani, N. Philip, D. Niyazov, C. Leoni, T. Nakane, K. Keppler-Noreuil, S.R. Braddock, G. Gillessen-Kaesbach, A. Palleschi, P.M. Campeau, B.H.L. Lee, C. Pouponnot, L. Stella, G. Bocchinfuso, N. Katsanis, K. Sol-Church, M. Tartaglia;
Rome, Italy


Evidence for directional dominance on complex traits relating to size and cognition in a wide range of human populations

Peter Joshi*, T. Esko, H. Matteson, N. Eklund, I. Gandin, A. Jackson, T. Nutile, C. Schurmann, O. Polasek, J.F. Wilson;
Edinburgh, United Kingdom


PLP1 mutations affecting PLP1/DM20 alternative splicing causes Hypomyelination of Early Myelinating Structures

Sietske H. Kevelam*, J.R. Taube, R.M.L. van Spaendonk, E. Bertini, K. Sperle, M. Tarnopolsky, D. Tonduti, E.M. Valente, L. Travaglini, E.A. Sistermans, G. Bernard, C.E. Catsman-Berrevoets, C.D.M. van Karnebeek, J.R. Østergaard, R.L. Friederich, M. Fawzi, J.H. Schieving, M. Tarailo-Graovac, S. Orcesi, M.E. Steenweg, C.G.M. van Berkel, Q. Waisfisz, T.E.M. Abbink, M.S. van der Knaap, G.M. Hobson, N.I. Wolf;
Amsterdam, Netherlands

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