Identification of a mutation in LARS as a novel cause of infantile hepatopathy
Casey, Jillian P., McGettigan, Paul, Lynam-Lennon, Niamh, McDermott, Michael, Regan, Regina, Conroy, Judith, Bourke, Billy, Sullivan, Jacintha O', Crushell, Ellen, Lynch, SallyAnn, Ennis, Sean
Published in Molecular genetics and metabolism (01.07.2012)
Published in Molecular genetics and metabolism (01.07.2012)
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Journal Article
HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships
Magalhães, Tiago R, Casey, Jillian P, Conroy, Judith, Regan, Regina, Fitzpatrick, Darren J, Shah, Naisha, Sobral, João, Ennis, Sean
Published in PloS one (26.11.2012)
Published in PloS one (26.11.2012)
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Journal Article
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
Casey, Jillian P, Støve, Svein I, McGorrian, Catherine, Galvin, Joseph, Blenski, Marina, Dunne, Aimee, Ennis, Sean, Brett, Francesca, King, Mary D, Arnesen, Thomas, Lynch, Sally Ann
Published in Scientific reports (02.11.2015)
Published in Scientific reports (02.11.2015)
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Journal Article
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns
Casey, Jillian P., Hirouchi, Taisei, Hisatsune, Chihiro, Lynch, Bryan, Murphy, Raymond, Dunne, Aimee M., Miyamoto, Akitoshi, Ennis, Sean, van der Spek, Nick, O’Hici, Bronagh, Mikoshiba, Katsuhiko, Lynch, Sally Ann
Published in Journal of neurology (01.07.2017)
Published in Journal of neurology (01.07.2017)
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Journal Article
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
Casey, Jillian P., Slattery, Suzanne, Cotter, Melanie, Monavari, A. A., Knerr, Ina, Hughes, Joanne, Treacy, Eileen P., Devaney, Deirdre, McDermott, Michael, Laffan, Eoghan, Wong, Derek, Lynch, Sally Ann, Bourke, Billy, Crushell, Ellen
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Journal Article
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects
Casey, Jillian P, Brennan, Kieran, Scheidel, Noemie, McGettigan, Paul, Lavin, Paul T, Carter, Stephen, Ennis, Sean, Dorkins, Huw, Ghali, Neeti, Blacque, Oliver E, Mc Gee, Margaret M, Murphy, Helen, Lynch, Sally Ann
Published in Human molecular genetics (01.05.2016)
Published in Human molecular genetics (01.05.2016)
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Journal Article
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Almeida, Joana, Bacchelli, Elena, Battaglia, Agatino, Berney, Tom, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Holt, Richard, Hus, Vanessa, Klauck, Sabine M., Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McMahon, William M., Merikangas, Alison, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Rutter, Michael L., Soorya, Latha, Sousa, Inês, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Monaco, Anthony P., Nurnberger, John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Sutcliffe, James S., Szatmari, Peter, Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, Ennis, Sean
Published in Human genetics (01.04.2012)
Published in Human genetics (01.04.2012)
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Journal Article
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Ng, Yi Shiau, Alston, Charlotte L, Diodato, Daria, Morris, Andrew A, Ulrick, Nicole, Kmoch, Stanislav, Houštěk, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvílová, Hana, Santra, Saikat, Brown, Ruth M, Brown, Garry K, Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P, Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Østergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W, McFarland, Robert
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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Journal Article
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population
Casey, Jillian P, McGettigan, Paul A, Healy, Fiona, Hogg, Claire, Reynolds, Alison, Kennedy, Breandan N, Ennis, Sean, Slattery, Dubhfeasa, Lynch, Sally A
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Journal Article
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 P, Goggin, Patricia, McDaid, Jennifer, White, Martin, Ennis, Sean, Betts, David R, Lucas, Jane S, Elnazir, Basil, Lynch, Sally Ann
Published in BMC medical genetics (30.06.2015)
Published in BMC medical genetics (30.06.2015)
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Journal Article
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation
O'Byrne, James J., Ryan, Helen, Murray, Dylan J., Regan, Regina, Betts, David R., Murphy, Nuala, Casey, Jillian P., Lynch, Sally A.
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Journal Article
Cover Image, Volume 173A, Number 1, January 2017
O'Byrne, James J., Ryan, Helen, Murray, Dylan J., Regan, Regina, Betts, David R., Murphy, Nuala, Casey, Jillian P., Lynch, Sally A.
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Journal Article
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
ANNEY, Richard Jl, KENNY, Elaine M, O'DUSHLAINE, Colm, YASPAN, Brian L, PARKHOMENKA, Elena, GENOME PROJECT, The Autism, BUXBAUM, Joseph D, SUTCLIFFE, James, GILL, Michael, GALLAGHER, Louise
Published in European journal of human genetics : EJHG (01.10.2011)
Published in European journal of human genetics : EJHG (01.10.2011)
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Journal Article
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
Casey, Jillian P., Crushell, Ellen, Thompson, Kyle, Twomey, Eilish, He, Langping, Ennis, Sean, Philip, Roy K., Taylor, Robert W., King, Mary D., Lynch, Sally Ann
Published in JIMD Reports, Volume 26 (01.01.2016)
Published in JIMD Reports, Volume 26 (01.01.2016)
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Book Chapter
Journal Article
Vocal cord paralysis in association with 9q34 duplication
Gadancheva, Veselina G, Casey, Jillian P, Russell, John D, McDaid, Jennifer, Betts, David R, Lynch, Sally A
Published in Clinical dysmorphology (01.07.2014)
Published in Clinical dysmorphology (01.07.2014)
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Journal Article
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Vorstman, Jacob A.S., Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Bárbara, Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Gilbert, John, Duketis, Eftichia, Dombroski, Beth A., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Conceição, Inês C., Chiocchetti, Andreas G., Casey, Jillian P., Cai, Guiqing, Cabrol, Christelle, Bacchelli, Elena, Gallinger, Steven, Cotterchio, Michelle, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L. Alison, McGrew, Susan G., Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S., Kolevzon, Alexander, Jiménez González, Patricia, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Bernier, Raphael, Baird, Gillian, Bailey, Anthony J., Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Pericak-Vance, Margaret, Paterson, Andrew D., Parr, Jeremy R., Oliveira, Guiomar, Nurnberger, John I., Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James S., Hallmayer, Joachim, Gill, Michael, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen W.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Journal Article
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
Hadley, Dexter, Wu, Zhi-Liang, Kao, Charlly, Kini, Akshata, Mohamed-Hadley, Alisha, Thomas, Kelly, Vazquez, Lyam, Qiu, Haijun, Mentch, Frank, Pellegrino, Renata, Kim, Cecilia, Connolly, John, Glessner, Joseph, Hakonarson, Hakon
Published in Nature communications (13.06.2014)
Published in Nature communications (13.06.2014)
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Journal Article
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca^sup 2+^ signal patterns
Casey, Jillian P, Hirouchi, Taisei, Hisatsune, Chihiro, Lynch, Bryan, Murphy, Raymond, Dunne, Aimee M, Miyamoto, Akitoshi, Ennis, Sean, van der Spek, Nick, O'hici, Bronagh, Mikoshiba, Katsuhiko, Lynch, Sally Ann
Published in Journal of neurology (01.07.2017)
Published in Journal of neurology (01.07.2017)
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Journal Article
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca 2+ signal patterns
Casey, Jillian P, Hirouchi, Taisei, Hisatsune, Chihiro, Lynch, Bryan, Murphy, Raymond, Dunne, Aimee M, Miyamoto, Akitoshi, Ennis, Sean, van der Spek, Nick, O'Hici, Bronagh, Mikoshiba, Katsuhiko, Lynch, Sally Ann
Published in Journal of neurology (01.07.2017)
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Published in Journal of neurology (01.07.2017)
Journal Article