Publications by authors named "Jillian Casey"

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Catalogue of inherited disorders found among the Irish Traveller population.
Sally Ann Lynch, Ellen Crushell, Deborah M Lambert, Niall Byrne, Kathleen Gorman, Jillian Casey

J Med Genet· April 2018

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A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca signal patterns.
Jillian P Casey, Taisei Hirouchi, Chihiro Hisatsune, Bryan Lynch, Raymond Murphy

J Neurol· July 2017

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Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
James J O'Byrne, Helen Ryan, Dylan J Murray, Regina Regan, David R Betts, Jillian P Casey

Am J Med Genet A· January 2017

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The clinical, biochemical and genetic features associated with -related mitochondrial disease.
Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Jillian P Casey

J Med Genet· November 2016

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Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.
Jillian Casey, Karen Flood, Sean Ennis, Emma Doyle, Michael Farrell

Prenat Diagn· November 2016

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Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari

Clin Dysmorphol· October 2016

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Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
Jillian P Casey, Ellen Crushell, Kyle Thompson, Eilish Twomey, Langping He

JIMD Rep· May 2016

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Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
Jillian P Casey, Kieran Brennan, Noemie Scheidel, Paul McGettigan, Paul T Lavin

Hum Mol Genet· May 2016

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Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
Jillian P Casey, Suzanne Slattery, Melanie Cotter, A A Monavari, Ina Knerr

J Inherit Metab Dis· November 2015

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NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
Jillian P Casey, Svein I Støve, Catherine McGorrian, Joseph Galvin, Marina Blenski

Sci Rep· November 2015

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A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
Jillian P Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis

BMC Med Genet· June 2015

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Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
Jillian P Casey, Paul A McGettigan, Fiona Healy, Claire Hogg, Alison Reynolds

Eur J Hum Genet· February 2015

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Vocal cord paralysis in association with 9q34 duplication.
Veselina G Gadancheva, Jillian P Casey, John D Russell, Jennifer McDaid, David R Betts

Clin Dysmorphol· July 2014

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Jillian P Casey, Graham Casey

Am J Hum Genet· May 2014

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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.
Jillian Casey, Paul McGettigan, Donal Brosnahan, Emma Curtis, Eileen Treacy

Eur J Med Genet· February 2014

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A genome-wide association study of recipient genotype and medium-term kidney allograft function.
Robert P O'Brien, Paul J Phelan, Judith Conroy, Patrick O'Kelly, Andrew Green, Jillian Casey

Clin Transplant· January 2014

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HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships.
Tiago R Magalhães, Jillian P Casey, Judith Conroy, Regina Regan, Darren J Fitzpatrick

PLoS One· May 2013

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Individual common variants exert weak effects on the risk for autism spectrum disorders.
Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Jillian Casey

Hum Mol Genet· November 2012

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Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Jillian P Casey, Paul McGettigan, Niamh Lynam-Lennon, Michael McDermott, Regina Regan

Mol Genet Metab· July 2012

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Jillian P Casey, Tiago Magalhaes, Judith M Conroy, Regina Regan, Naisha Shah

Hum Genet· April 2012

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Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.
Jillian P Casey, Michael Nobbs, Paul McGettigan, Sallyann Lynch, Sean Ennis

J Med Genet· April 2012

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First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan

Hum Mutat· December 2011

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A genome-wide scan for common alleles affecting risk for autism.
Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, Jillian Casey

Hum Mol Genet· October 2010

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Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Jillian Casey

Nature· July 2010

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