Concurrent Sessions C01 - C06 - Sunday, May 29 - 13.15 - 14.45 hrs
C01 Cancer Genetics | C02 Clinical Genetics and Dysmorphology | C03 Skeletal and Multisystem Disorders | C04 Unusual Mutation & DNA Repair Mechanisms | C05 Statistical Genetics & Large Scale Analysis | C06 Evolutionary and Population Genetics | |
13.15 | C01.1 Landscape of somatic structural alterations in chronic lymphocytic leukemia (CLL) detected by whole-genome sequencing | C02.1 Clinical and molecular findings in 91 patients with the clinical diagnosis of Cornelia de Lange Syndrome | C03.1 Mutations in multiple components of the pre-replication complex cause microcephalic primordial dwarfism and Meier-Gorlin syndrome | C04.1 A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy | C05.1 Novel Method to Estimate the Phenotypic Variation Explained by Genome Wide Association Studies Reveals Large Fraction of the Missing Heritability | C06.1 Identification of recent admixture in an Indian population of African ancestry: prospects for complex disease mapping |
| 13.30 | C01.2 Exome sequencing in the identification of breast cancer predisposition genes | C02.2 Advances in phenotype-genotype correlations in Holoprosencephaly: about a European series of 645 probands. | C03.2 Exome sequencing identifies truncating mutations in NOTCH2 as a cause of Hajdu-Cheney syndrome | C04.2 High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays | C05.2 Accurate prediction of a minimal region around a genetic association signal that contains the causal variant | C06.2 Identification of loci governing phenotypic traits in dog breeds highlights disease genes of relevance to human health |
| 13.45 | C01.3 The role of germline allele-specific expression of TGFBR1 in colorectal cancer predisposition | C02.3 Microcephaly with simplified gyration, West syndrome and infantile diabetes linked to inappropriate apoptosis of neural progenitors | C03.3 Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive Osteogenesis Imperfecta | C04.3 Non-coding, regulatory mutation implicates the HCFC1 gene in non-syndromic intellectual disability. | C05.3 Anaylsis of 150 exomes using an automated analysis pipeline | C06.3 Increased number of microRNA target sites in genes encoded in CNV regions. Εvidence for an evolutionary genomic interaction? |
| 14.00 | C01.4 Chromosomal, epigenetic and microRna-mediated inactivation of LRP1B, a modulator of the extracellular environment of thyroid cancer cells | C02.4 Ageing in Prader-Willi syndrome: Twelve persons over the age of 50 years | C03.4 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome | C04.4 Distinct effects of allelic NFI-X mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome | C05.4 Identity-By-Descent Filtering of Exome Sequence data for Disease-Gene Identification in Autosomal Recessive and X-Linked Disorders | C06.4 Loss and gain of function in human SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions |
| 14.15 | C01.5 Chromosomal instability in cancer: How does p53 guard the genome? | C02.5 Craniofacial characteristics of Fragile X syndrome identified by dense surface and signature graph analyses | C03.5 Genetic deficiency of tartrate-resistant acid phosphatase (TRAP) associated with skeletal dysplasia, cerebral calcifications and autoimmunity: delineation of a new defect in a lysosomal enzyme | C04.5 Revertant somatic mosaicism in Dyskeratosis Congenita by mitotic recombination. | C05.5 Genome-Wide Association Meta-Analysis of Total Brain Volume: Results from the ENIGMA Consortium | C06.5 Remarkably little homozygosity in first generation mixed race individuals |
| 14.30 | C01.6 Germline gain-of-function mutations of ALK disrupt central nervous system development | C02.6 Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. | C03.6 De novo nonsense mutations of ASXL1 cause Bohring-Opitz (Oberklaid-Danks) syndrome | C04.6 Mutations in RAD21 as a cause of a new cohesinopathy | C05.6 The influence of genetic variations on regulatory modules in the liver. | C06.6 Microsatellite choice and Y chromosome variation: attempting to select the best STRs to date human Y chromosome lineages |