Southern Cross Soloists Season 2016

Ensemble in Residence at the Queensland Performing Arts Centre, Southern Cross Soloists present three concerts: Forbidden Love (with Jack Liebeck, Violin)– 20th March 2016 at 3pm Visions of Earth (with William Barton, Didjeridu)– 19th June 2016 at 3pm Heavenly Voice (with Sara Macliver, Soprano)– 27th November 2016 at 3p

Bella España

The Resonate concert series for 2015 brings art and music together in a highly original program featuring some of Australia’s best-loved performers. An internationally successful ensemble based at the Queensland Performing Arts Centre in Brisbane, the Southern Cross Soloists have helped set the benchmark for Australian chamber music since 1995. The Soloists have earned a well-deserved reputation for artistic excellence and continue to surprise and delight audiences with their constantly evolving repertoire and ever-changing annual programs. Their informal, up-close-and-personal performance style creates an intimate, inviting and deeply engaging experience. Acclaimed guitarist Slava Grigoryan joins the Southern Cross Soloists to present Bella España, a fiery program of Latin-influenced works celebrating dance and romance. Grigoryan, already a favourite with Gallery audiences, is one of Australia’s most renowned classical guitarists and a former Young Australian of the Year for the arts. In this program, works by Granados, De Falla and De Milan are paired with the flaming sounds of Villa-Lobos and Piazzolla, showcasing the beauty and intimacy of chamber music and the brilliance of the Spanish guitar

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population