Published Date Title Author(s)
Feb-2014 Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria Casey, Jillian; McGettigan, Paul A.; Brosnahan, Donal; et al.
30-Jun-2015 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder Casey, Jillian; Goggin, Patricia; McDaid, Jennifer; Ennis, Sean; Lynch, Sally; et al.
Nov-2015 Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS Casey, Jillian; Slattery, Suzanne; Cotter, Melanie; Lynch, Sally; Crushell, Ellen; et al.
Dec-2011 First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; McGettigan, Paul A.; Nielsen, Jens Erik; Conroy, Judith; Regan, Regina; Kennedy, Breandán; Lynch, Sally; Green, Andrew; Ennis, Sean; et al.
15-Jul-2010 Functional impact of global rare copy number variation in autism spectrum disorders Pinto, Dalila; Pagnamenta, Alistair T.; Klei, Lambertus; Regan, Regina; Conroy, Judith; Casey, Jillian; Green, Andrew; Segurado, Ricardo; Shah, Naisha; Ennis, Sean; et al.
27-Jul-2010 A genome-wide scan for common alleles affecting risk for autism Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Casey, Jillian; Segurado, Ricardo; Shah, Naisha; Ennis, Sean; et al.
Jul-2012 Identification of a mutation in LARS as a novel cause of infantile hepatopathy Casey, Jillian; McGettigan, Paul A.; Lynam-Lennon, Niamh; Regan, Regina; Conroy, Judith; Bourke, Billy; Lynch, Sally; Ennis, Sean; et al.
Apr-2012 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Casey, Jillian; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Shields, Denis C.; Green, Andrew; Ennis, Sean; et al.
Apr-2012 Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair Casey, Jillian; Nobbs, Michael; McGettigan, Paul A.; Ennis, Sean; et al.
May-2014 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population Casey, Jillian; McGettigan, Paul A.; Healy, Fiona; Reynolds, Alison; Kennedy, Breandán; Ennis, Sean; Slattery, Dubhfeasa; Lynch, Sally; Hogg, Claire