Search Results - "CASEY, Jillian"

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment by 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

“…We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism,…”
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Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair by Casey, Jillian P, Nobbs, Michael, McGettigan, Paul, Lynch, Sallyann, Ennis, Sean

“…A study is presented of 10 children with a novel syndrome born to consanguineous parents from the Irish Traveller population. The syndrome is characterised by…”
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Identification of a mutation in LARS as a novel cause of infantile hepatopathy by 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

“…Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller…”
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Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS by 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

“…Background Recessive LARS mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers…”
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Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects by 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

“…Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. Whilst >450 skeletal dysplasias have been reported,…”
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A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns by 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

“…We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant…”
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder by 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

“…Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive…”
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HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships by Magalhães, Tiago R, Casey, Jillian P, Conroy, Judith, Regan, Regina, Fitzpatrick, Darren J, Shah, Naisha, Sobral, João, Ennis, Sean

“…Knowledge of human origins, migrations, and expansions is greatly enhanced by the availability of large datasets of genetic information from different…”
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Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population by Casey, Jillian P, McGettigan, Paul A, Healy, Fiona, Hogg, Claire, Reynolds, Alison, Kennedy, Breandan N, Ennis, Sean, Slattery, Dubhfeasa, Lynch, Sally A

“…We present a study of five children from three unrelated Irish Traveller families presenting with primary ciliary dyskinesia (PCD). As previously characterized…”
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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 by Casey, Jillian P, Goggin, Patricia, McDaid, Jennifer, White, Martin, Ennis, Sean, Betts, David R, Lucas, Jane S, Elnazir, Basil, Lynch, Sally Ann

“…Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to…”
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Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation by O'Byrne, James J., Ryan, Helen, Murray, Dylan J., Regan, Regina, Betts, David R., Murphy, Nuala, Casey, Jillian P., Lynch, Sally A.

“…We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3. The child…”
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Cover Image, Volume 173A, Number 1, January 2017 by O'Byrne, James J., Ryan, Helen, Murray, Dylan J., Regan, Regina, Betts, David R., Murphy, Nuala, Casey, Jillian P., Lynch, Sally A.

“…The cover image, by James J. O'Byrne et al., is based on the Clinical Report Bicoronal and metopic craniosynostosis in association with a de novo unbalanced…”
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Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders by 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

“…Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite…”
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Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? by 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

“…Background: We report a consanguineous Sudanese family whose two affected sons presented with a lethal disorder characterised by severe neonatal lactic…”
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Vocal cord paralysis in association with 9q34 duplication by Gadancheva, Veselina G., Casey, Jillian P., Russell, John D., McDaid, Jennifer, Betts, David R., Lynch, Sally A.

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders by 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.

“…Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an…”
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Individual common variants exert weak effects on the risk for autism spectrum disorders by Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, J A S, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J

“…While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common…”
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Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing by Casey, Jillian, Flood, Karen, Ennis, Sean, Doyle, Emma, Farrell, Michael, Lynch, Sally Ann

“…Objective To determine the underlying molecular aetiology in a non‐consanguineous Irish family who have had three fetal losses because of a primary myopathy…”
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Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing: Intra-familial variability associated with recessive RYR1 mutations by Casey, Jillian, Flood, Karen, Ennis, Sean, Doyle, Emma, Farrell, Michael, Lynch, Sally Ann

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The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism by 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

“…Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities…”
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