Jillian P Casey

Jillian P Casey

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Jillian P Casey

Jillian P Casey

Publications by authors named "Jillian P Casey"

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Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

Am J Med Genet A 2017 Jan 24;173(1):274-279. Epub 2016 Oct 24.

Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.38001DOI Listing
January 2017

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Hum Mol Genet 2016 05 21;25(9):1824-35. Epub 2016 Feb 21.

Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland, UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences.

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http://dx.doi.org/10.1093/hmg/ddw054DOI Listing
May 2016

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

J Inherit Metab Dis 2015 Nov 28;38(6):1085-92. Epub 2015 Apr 28.

UCD Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.

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http://link.springer.com/10.1007/s10545-015-9849-1
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http://dx.doi.org/10.1007/s10545-015-9849-1DOI Listing
November 2015

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Eur J Hum Genet 2015 Feb 14;23(2):210-7. Epub 2014 May 14.

1] Genetics Department, Temple Street Children's University Hospital, Dublin 1, Ireland [2] Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Belfield, Dublin 4, Ireland [3] National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.79
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http://dx.doi.org/10.1038/ejhg.2014.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297907PMC
February 2015

Vocal cord paralysis in association with 9q34 duplication.

Clin Dysmorphol 2014 Jul;23(3):105-8

aNational Centre for Medical Genetics bDepartment of Paediatric Otolaryngology, Our Lady's Children's Hospital Crumlin cDepartment of Genetics, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000040DOI Listing
July 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Rogé Wendy Roberts Fritz Poustka Susana Mouga Nancy Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S Sutcliffe Joachim Hallmayer Michael Gill Edwin H Cook Joseph D Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00150-5.pdf
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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400150
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http://dx.doi.org/10.1016/j.ajhg.2014.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

Mol Genet Metab 2012 Jul 26;106(3):351-8. Epub 2012 Apr 26.

National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.017DOI Listing
July 2012

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Authors:
Jillian P Casey Tiago Magalhaes Judith M Conroy Regina Regan Naisha Shah Richard Anney Denis C Shields Brett S Abrahams Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Patrick F Bolton Thomas Bourgeron Sean Brennan Phil Cali Catarina Correia Christina Corsello Marc Coutanche Geraldine Dawson Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Suzanne Foley Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jonathan Green Stephen J Guter Hakon Hakonarson Richard Holt Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Janine A Lamb Marion Leboyer Ann Le Couteur Bennett L Leventhal Catherine Lord Sabata C Lund Elena Maestrini Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Judith Miller Fiorella Minopoli Ghazala K Mirza Jeff Munson Stanley F Nelson Gudrun Nygren Guiomar Oliveira Alistair T Pagnamenta Katerina Papanikolaou Jeremy R Parr Barbara Parrini Andrew Pickles Dalila Pinto Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Jiannis Ragoussis Bernadette Roge Michael L Rutter Ana F Sequeira Latha Soorya Inês Sousa Nuala Sykes Vera Stoppioni Raffaella Tancredi Maïté Tauber Ann P Thompson Susanne Thomson John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Jacob A S Vorstman Simon Wallace Kai Wang Thomas H Wassink Kathy White Kirsty Wing Kerstin Wittemeyer Brian L Yaspan Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Daniel H Geschwind Jonathan L Haines Joachim Hallmayer Anthony P Monaco John I Nurnberger Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Veronica J Vieland Ellen M Wijsman Andrew Green Michael Gill Louise Gallagher Astrid Vicente Sean Ennis

Hum Genet 2012 Apr 14;131(4):565-79. Epub 2011 Oct 14.

School of Medicine and Medical Science University College, Dublin, Ireland.

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http://researchrepository.ucd.ie/bitstream/handle/10197/6163
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http://link.springer.com/10.1007/s00439-011-1094-6
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http://dx.doi.org/10.1007/s00439-011-1094-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303079PMC
April 2012

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.

J Med Genet 2012 Apr;49(4):242-5

National Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2012-100803
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http://dx.doi.org/10.1136/jmedgenet-2012-100803DOI Listing
April 2012