Concurrent Sessions C13 - C17 - Tuesday, May 31 - 11.00 - 12.30 hr
C13 Molecular Cytogenetics | C14 Genetic Counselling, Education and Public Policy | C15 Intellectual Disability | C16 Genomic Applications | C17 Molecular Basics of Genetic Diseases | |
11.00 | P11.037 Copy number variation and chromatin structure | C14.1 Cutting edge technology and old-fashioned relationships: ethical reflections on incidental findings arising from whole genome and exome sequencing | C15.1 Epigenetic regulation of learning & memory in a Drosophila model for Kleefstra syndrome | C16.1 High-resolution whole genome sequencing reveals specific chromatin domains from most human chromosomes associate with nucleoli | C17.1 Hypofunctional CHD1L variants in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) |
| 11.15 | C13.2 Balanced translocation and copy number detection in hematologic disorders by array CGH | C14.2 Public attitudes towards genetic testing revisited. Comparing opinions between 2002 and 2010 | C15.2 Mutations in the NSUN2 and ZNF526 genes cause autosomal recessive intellectual disability in Middle Eastern populations with elevated frequency | C16.2 Interrogation of high purity primary cell subsets demonstrates the majority of eQTLs operate in a cellular discrete manner | C17.2 First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma |
| 11.30 | C13.3 A standardized statistical decision procedure for mosaic detection by array CGH | C14.3 Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing | C15.3 Mutations in genes encoding adaptor protein complex 4 (AP-4) subunits cause a clinically recognizable autosomal recessive syndrome | C16.3 Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor | C17.3 Mutations in the 5' UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, cause an Autosomal-Dominant form of inherited Thrombocytopenia, THC2 |
| 11.45 | C13.4 A significant proportion of private inherited CNVs has pathogenic relevance in intellectual disability: clinical-genetic survey in 40 families | C14.4 Familial Breast cancer: Is it time to move from a reactive to a proactive role? | C15.4 A novel dynamic mutation in AFF3 associated with developmental delay | C16.4 Unmasking of pathogenic rare variants by inherited deletions detected with multiplexed capture array-based re-sequencing. | C17.4 Genomic instability represents the unifying molecular pathology of progressive muscular dystrophies and muscle-derived sarcomas |
| 12.00 | C13.5 The power of high resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome | C14.5 Risk predictions from direct-to-consumer personal genome testing: What do consumers really learn about common disease risk? | C15.5 Mutation in ARID1B as a frequent cause of intellectual disability | C16.5 De novo copy number variations causing mental retardation show a significant paternal origin bias and are associated with increased paternal age | C17.5 A new human ichthyosis gene revealed by the canine genetic model |
| 12.15 | C13.6 Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions | C14.6 Clinical, biochemical and molecular overview of the Ehlers-Danlos Syndrome, vascular type: the Ghent experience | C15.6 Haploinsufficiency of microRNA-137 is associated with intellectual disability in patients with overlapping deletions in 1p21.3 | C16.6 Functional validation of GWAS loci for platelet traits in Danio rerio reveals new regulators of haematopoiesis | C17.6 siRNA silencing of proteasome maturation protein (POMP) expression activates the unfolded protein response and constitutes a model for KLICK syndrome |