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

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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

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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

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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

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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

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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

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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

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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

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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

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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.

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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.

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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 J L, Kenny, Elaine M, O'Dushlaine, Colm, Yaspan, Brian L, Parkhomenka, Elena, Buxbaum, Joseph D, Sutcliffe, James, Gill, Michael, Gallagher, Louise

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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

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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.

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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

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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

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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

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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria by Casey, Jillian, McGettigan, Paul, Brosnahan, Donal, Curtis, Emma, Treacy, Eileen, Ennis, Sean, Lynch, Sally Ann

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A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca^sup 2+^ 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

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