| | C07 Prenatal Diagnosis and Reproduction | C08 NGS for Gene Identification and Genetic Testing | C09 Clinical genetics and Dysmorphology II | C10 Complex Disease Genetics | C11 Centrosomal and Ciliary Defects | C12 Neuro and Sensory Diseases |
13.15 | C07.1 Impact of mtDNA mutations on mtDNA segregation throughout human oogenesis
S. Monnot, N. Gigarel, D. C. Samuels, P. Burlet, L. Hesters, N. Frydman, R. Frydman, V. Kerbrat, B. Funalot, A. Benachi, J. Feingold, A. Munnich, J. Bonnefont, J. Steffann | C08.1 A de novo paradigm for mental retardation
L. Vissers, J. de Ligt, B. van Bon, C. Gilissen, M. Willemsen, I. Janssen, J. Schuurs-Hoeijmakers, M. Steehouwer, W. Nillesen, P. de Vries, K. van der Donk, B. van Lier, P. Arts, H. Scheffer, N. Wieskamp, M. del Rosario, A. de Brouwer, A. Hoischen, T. Kleefstra, B. de Vries, H. Brunner, J. Veltman | C09.1 Dystrophinopathies and X-inactivation pattern: about 26 symptomatic carriers at pediatric age
S. Mercier, A. Toussaint, C. Beugnet, C. De Baracé, A. Toutain, M. Raynaud, P. Marcorelles, L. Pasquier, C. Espil, J. Chauvel-Breton, R. Ben Yaou, F. Leturcq, J. Chelly, I. Desguerre | C10.1 Genomewide association study identifies nine novel susceptibility loci for Dupuytren's disease, and suggests a major role for WNT signalling
D. Furniss, G. H. C. G. Dolmans, P. Werker, H. Hennies, H. Giele, R. Ophoff, C. Wijmenga | C11.1 Mutations of CEP152 encoding a centrosomal protein cause Seckel syndrome with defective DNA damage response
E. Kalay, G. Yigit, Y. Aslan, K.E. Brown, E. Pohl, L.S. Bicknell, H. Kayserili, Y. Li, B. Tüysüz, G. Nürnberg, W. Kiess, M. Koegl, I. Baessmann, K. Buruk, B. Toraman, S. Kayipmaz, S. Kul, M. Ikbal, D.J. Turner, M.S. Taylor, J. Aerts, C. Scott, K. Milstein, H. Dollfus, D. Wieczorek, H.G. Brunner, M. Hurles, A.P. Jackson, A. Rauch, P. Nürnberg, A. Karagüzel, B. Wollnik | C12.1 A genome wide study reveals rare CNVs exclusive to Alzheimer Disease extreme phenotypes
A. Rovelet-Lecrux, S. Legallic, D. Wallon, J. Flaman, T. Frebourg, D. Hannequin, D. Campion |
| 13.30 | C07.2 Pre-implantation genetic diagnosis offers a fair chance of having unaffected offspring for mitochondrial DNA disorders
D. Hellebrekers, R. Wolfe, A. Hendrickx, R. de Coo, C. de Die, J. Geraedts, P. Chinnery, H. Smeets | C08.2 Homozygosity mapping, exon enrichment and next generation sequencing reveals single plausible gene defects in 72 consanguineous families with autosomal recessive intellectual disability
H. Najmabadi, H. Hu, M. Garshasbi, T. Zemojtel, S. S. Abedini, W. Chen, M. Hosseini, F. Behjati, S. Haas, P. Jamali, A. Zecha, M. Mohseni, L. Püttmann, L. Nouri, L. Moheb, F. Larti, R. Weissmann, H. Darvish, K. Wrogemann, V. Hadavi, D. Wieczorek, S. G. Firouzabadi, M. Cohen, Z. Fattahi, I. Rost, F. Mojahedi, C. Hertzberg, A. Dehghan, A. Rajab, M. J. S. Banavandi, J. Hoffer, M. Falah, L. Musante, V. Kalscheuer, R. Ullmann, A. Kuss, A. Tzschach, K. Kahrizi, H. H. Ropers | C09.2 Development of systemic antisense treatment in dystrophic mouse models for Duchenne Muscular Dystrophy
A. Aartsma-Rus, C. Tanganyika-de Winter, T. Karnaoek, J. C. T. van Deutekom, G. B. van Ommen | C10.2 Fine mapping of the celiac disease locus on 3q27-q28 harboring the LPP gene
R. C. Almeida, G. Trynka, J. Romanos, J. Gutierrez-Achury, C. Wijmenga | C11.2 NEK1 mutations cause short rib-polydactyly syndrome type Majewski
C. T. Thiel, K. Kessler, A. Giessl, A. Dimmler, S. Shalev, S. von der Haar, D. Zahnleiter, H. Stoess, E. Beinder, R. Abou Jamra, A. B. Ekici, N. Schroeder-Kress, T. Aigner, T. Kirchner, A. Reis, J. Brandstaetter, A. Rauch | C12.2 Loss of Cav1.3 (CACNA1D) function in SANDD syndrome, a novel human channelopathy with bradycardia and congenital deafness
S. M. Baig, A. Koschak, A. Lieb, M. Gebhart, C. Dafinger, G. Nürnberg, A. Ali, I. Ahmad, M. J. Sinnegger-Brauns, N. Brandt, J. Engel, M. E. Mangoni, M. Farooq, H. U. Khan, P. Nürnberg, J. Striessnig, H. J. Bolz |
| 13.45 | C07.3 Multiplex massively parallel sequencing for noninvasive prenatal diagnosis
B. H. W. Faas, L. E. L. M. Vissers, I. M. Janssen, J. de Ligt, A. Eggink, J. A. Veltman, A. Geurts van Kessel | C08.3 Exome sequencing and ACAD9 mutation screening of patients with complex I deficiency
T. Haack, K. Danhauser, B. Haberberger, P. Freisinger, S. Eck, M. Zeviani, T. Strom, T. Meitinger, H. Prokisch | C09.3 A guideline for CHD7 analysis
N. Janssen, J. E. H. Bergman, R. M. W. Hofstra, L. H. Hoefsloot, C. M. A. van Ravenswaaij-Arts | C10.3 A genome-wide association study identifies 2 loci associated with heart failure due to dilated cardiomyopathy
E. Villard, C. Perret, F. Gary, C. Proust, G. Dilanian, C. Hengstenberg, S. Cook, D. Tregouet, L. Tiret, R. Isnard, M. Komajda, P. Charron, f. Cambien | C11.3 Whole Exome Sequencing Identifies The Genetic Cause Of A New Ciliopathy Syndrome
A. M. Waters, F. Lescai, S. Christou, A. Brooks, E. Chanudet, D. Charu, R. Kleta, M. Hubank, E. Stupka, M. Winey, P. L. Beales | C12.3 Validating massive parallel sequencing as a diagnostic tool for seizure disorders
J. Lemke, D. Boehm, E. Riesch, T. Scheurenbrand, C. Courage, S. Gallati, T. Dorn, M. Wolff, Y. Weber, H. Lerche, S. Biskup |
| 14.00 | C07.4 The Use Of Array CGH for Prenatal Diagnosis Of Fetuses With Congenital Malformations Detected By Ultrasound
P. D. Brady, E. Mattheeuws, J. A. Deprest, J. P. Fryns, K. Devriendt, J. R. Vermeesch | C08.4 Next Generation diagnosis of Glycogen Storage Diseases
F. Smith, T. Cullup, C. Deshpande, M. Champion, H. Mundy, K. Bhattacharya, S. Abbs, S. C. Yau | C09.4 The new Ghent criteria: What do they change?
L. Faivre, G. Collod-Beroud, L. Ades, E. Arbustini, E. Arbustini, B. Loeys, C. Binquet, E. Gautier, K. Mayer, M. Arslan-Kirchner, M. Grasso, C. Beroud, D. Hamroun, C. Bonithon-Kopp, H. Plauchu, P. N. Robinson, J. De Backer, P. Coucke, U. Francke, C. Stheneur, N. Hanna, D. Detaint, A. De Paepe, C. Boileau, G. Jondeau | C10.4 Accumulation of common lipid variants influences atherosclerosis, and incident cardiovascular disease
S. M. Willems, A. Dehghan, A. Hofman, B. A. Oostra, J. Witteman, C. M. van Duijn, A. Isaacs | C11.4 Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum
S. Thomas, A. Putoux, K. Coene, E. E. Davis, Y. Alanay, G. Ogur, E. Uz, D. Buzas, C. Gomes, S. Patrier, C. L. Bennett, N. Elkhartoufi, M. Saint-Frisson, L. Rigonnot, N. Joyé, S. Pruvost, G. E. Utine, K. Boduroglu, P. Nitschke, L. Fertitta, C. Thauvin, A. Munnich, V. Cormier-Daire, R. Hennekam, E. Colin, N. A. Akarsu, C. Bole-Feysot, N. Cagnard, A. Schmitt, N. Goudin, S. Lyonnet, F. Encha-Razavi, J. Siffroi, M. Winey, N. Katsanis, M. Gonzales, M. Vekemans, P. L. Beales, T. Attié-Bitach | C12.4 The XLID protein PQBP1 is a novel regulator of RNA metabolism
L. Musante, U. Fischer, A. Grimme, V. M. Kalscheuer |
| 14.15 | C07.5 Diagnostic utility of array-based comparative genomicv hybridization (aCGH) in a prenatal setting
I. Maya, B. Davidov, Y. Zalzstein, E. Taub, M. Shohat | C08.5 High Throughput Genetic Analysis in Patients with Hereditary Retinal and Optic Nerve Diseases
S. Biskup, B. Wissinger, T. Scheurenbrand, S. Kohl, D. Boehm | C09.5 Mutations in SMAD3 in the TGF-β pathway cause a new syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
I. M. B. H. van de Laar, R. A. Oldenburg, G. Pals, J. W. Roos-Hesselink, B. M. de Graaf, J. M. A. Verhagen, Y. M. Hoedemaekers, R. Willemsen, L. Severijnen, H. Venselaar, G. Vriend, P. M. Pattynama, M. Collée, J. Cobben, L. van Laer, J. De Backer, D. Majoor-Krakauer, D. Poldermans, I. M. E. Frohn-Mulder, D. Micha, J. Timmermans, Y. Hilhorst-Hofstee, S. M. Bierma-Zeinstra, P. J. Willems, J. M. Kros, E. H. G. Oei, B. Loeys, P. Coucke, B. A. Oostra, A. de Paepe, M. W. Wessels, A. M. Bertoli-Avella | C10.5 Lipidomic Profiles as Endophenotypes for Predicting Diabetes Progression in Mexican Americans
J. E. Curran, J. M. Weir, C. Bellis, M. A. Carless, J. B. Jowett, M. C. Mahaney, T. D. Dyer, H. H. H. Goring, A. G. Comuzzie, L. Almasy, P. J. Meikle, J. Blangero | C11.5 Sensenbrenner syndrome is caused by dysfunctional IFT-A mediated retrograde transport in the cilium
H. H. Arts, E. M. H. F. Bongers, D. A. Mans, S. E. van Beersum, M. M. Oud, E. Bolat, L. Spruijt, E. A. M. Cornelissen, J. H. M. Schuurs-Hoeijmakers, N. de Leeuw, V. Cormier-Daire, H. G. Brunner, N. V. A. M. Knoers, R. Roepman | C12.5 Genetic cause for infantile mitochondrial cardiomyopathy identified by exome sequencing
H. Tyynismaa, A. Götz, L. Euro, P. Ellonen, T. Hyötyläinen, R. H. Hämäläinen, J. Tommiska, T. Raivio, M. Oresic, R. Karikoski, K. O. J. Simola, A. Paetau, T. Tyni, A. Suomalainen |
| 14.30 | C07.6 Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
H. G. Yntema, E. Croonen, W. Nillesen, L. Martens, M. Schepens, M. Ruiterkamp-Versteeg, H. Scheffer, B. Faas, I. van der Burgt | C08.6 Multiplex Targeted High-Throughput Sequencing for mendelian cardiac disorders identified oligogenic inheritance
S. Fokstuen, S. Nikolaev, D. Robyr, A. Munoz, L. Farinelli, C. Iseli, S. E. Antonarakis, J. Blouin | C09.6 Novel Ehlers-Danlos Syndrome caused by mutations in the CHST14 gene - Expanding the Phenotype
R. Mendoza-Londono, D. Chitayat, W. Kahr, A. Hinek, L. Dupuis, E. Goh, S. Blaser, A. Howard, L. Mittaz, A. Superti-Furga, S. Unger, G. Nishimura, L. Bonafe | C10.6 Genetic association study of SNPs discovered from low coverage exome sequencing of 1000 phenotypically characterized Danish individuals
T. Sparso, A. Albrechtsen, L. Skotte, N. Grarup, T. Jorgensen, Y. Li, J. Wang, R. Nielsen, T. Hansen, O. Pedersen | C11.6 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
A. C. Merveille, E. Davis, A. Becker-Heck, M. Legendre, M. Georges, A. Lequarré, N. Katsanis, H. Omran, S. Amselem | C12.6 A novel GPI-deficiency related disorder: multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
G. Maydan, I. Noyman, A. Har-Zahav, Z. Ben Neriah, M. Pasmanik-Chor, A. Yeheskel, A. Albin-Kaplanski, I. Maya, N. Magal, A. J. Simon, G. Rechavi, M. Shohat, R. Straussberg, L. Basel-Vanagaite |
