Browsing by Author Casey, Jillian

Showing results 1 to 10 of 10
Published DateTitleAuthor(s)
Feb-2014Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteriaCasey, JillianMcGettigan, Paul A.Brosnahan, Donalet al.
30-Jun-2015A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorderCasey, JillianGoggin, PatriciaMcDaid, JenniferEnnis, SeanLynch, Sallyet al.
Nov-2015Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSCasey, JillianSlattery, SuzanneCotter, MelanieLynch, SallyCrushell, Ellenet al.
Dec-2011First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotypeCasey, JillianKawaguchi, RikiMorrissey, MariaMcGettigan, Paul A.Nielsen, Jens ErikConroy, JudithRegan, ReginaKennedy, BreandánLynch, SallyGreen, AndrewEnnis, Seanet al.
15-Jul-2010Functional impact of global rare copy number variation in autism spectrum disordersPinto, DalilaPagnamenta, Alistair T.Klei, LambertusRegan, ReginaConroy, JudithCasey, JillianGreen, AndrewSegurado, RicardoShah, NaishaEnnis, Seanet al.
27-Jul-2010A genome-wide scan for common alleles affecting risk for autismAnney, RichardKlei, LambertusPinto, DalilaRegan, ReginaCasey, JillianSegurado, RicardoShah, NaishaEnnis, Seanet al.
Jul-2012Identification of a mutation in LARS as a novel cause of infantile hepatopathyCasey, JillianMcGettigan, Paul A.Lynam-Lennon, NiamhRegan, ReginaConroy, JudithBourke, BillyLynch, SallyEnnis, Seanet al.
Apr-2012A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorderCasey, JillianMagalhaes, TiagoConroy, Judith M.Regan, ReginaShah, NaishaShields, Denis C.Green, AndrewEnnis, Seanet al.
Apr-2012Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repairCasey, JillianNobbs, MichaelMcGettigan, Paul A.Ennis, Seanet al.
May-2014Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller populationCasey, JillianMcGettigan, Paul A.Healy, FionaReynolds, AlisonKennedy, BreandánEnnis, SeanSlattery, DubhfeasaLynch, SallyHogg, Claire