SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke–Korsakoff’s Syndrome
O’Brien, Niamh L, Quadri, Giorgia, Lightley, Iain, Sharp, Sally I, Guerrini, Irene, Smith, Iain, Heydtmann, Mathis, Morgan, Marsha Y, Thomson, Allan D, Bass, Nicholas J, McHugh, Patrick C, McQuillin, Andrew
Published in Alcohol and alcoholism (Oxford) (10.09.2022)
Published in Alcohol and alcoholism (Oxford) (10.09.2022)
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Hypomethylation of FAM63B in bipolar disorder patients
Starnawska, Anna, Demontis, Ditte, McQuillin, Andrew, O'Brien, Niamh L, Staunstrup, Nicklas H, Mors, Ole, Nielsen, Anders L, Børglum, Anders D, Nyegaard, Mette
Published in Clinical epigenetics (11.05.2016)
Published in Clinical epigenetics (11.05.2016)
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Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels
Murray, Aoife, Gough, Gillian, Cindrić, Ana, Vučković, Frano, Koschut, David, Borelli, Vincenzo, Petrović, Dražen J, Bekavac, Ana, Plećaš, Ante, Hribljan, Valentina, Brunmeir, Reinhard, Jurić, Julija, Pučić-Baković, Maja, Slana, Anita, Deriš, Helena, Frkatović, Azra, Groet, Jűrgen, O'Brien, Niamh L, Chen, Hong Yu, Yeap, Yee Jie, Delom, Frederic, Havlicek, Steven, Gammon, Luke, Hamburg, Sarah, Startin, Carla, D'Souza, Hana, Mitrečić, Dinko, Kero, Mijana, Odak, Ljubica, Krušlin, Božo, Krsnik, Željka, Kostović, Ivica, Foo, Jia Nee, Loh, Yuin-Han, Dunn, Norris Ray, de la Luna, Susana, Spector, Tim, Barišić, Ingeborg, Thomas, Michael S C, Strydom, Andre, Franceschi, Claudio, Lauc, Gordan, Krištić, Jasminka, Alić, Ivan, Nižetić, Dean
Published in EBioMedicine (01.08.2023)
Published in EBioMedicine (01.08.2023)
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The functional GRM3 Kozak sequence variant rs148754219 affects the risk of schizophrenia and alcohol dependence as well as bipolar disorder
O'Brien, Niamh L, Way, Michael J, Kandaswamy, Radhika, Fiorentino, Alessia, Sharp, Sally I, Quadri, Giorgia, Alex, Jarram, Anjorin, Adebayo, Ball, David, Cherian, Raquin, Dar, Karim, Gormez, Aynur, Guerrini, Irene, Heydtmann, Mathis, Hillman, Audrey, Lankappa, Sudheer, Lydall, Greg, O'Kane, Aideen, Patel, Shamir, Quested, Digby, Smith, Iain, Thomson, Allan D, Bass, Nicholas J, Morgan, Marsha Y, Curtis, David, McQuillin, Andrew
Published in Psychiatric genetics (01.12.2014)
Published in Psychiatric genetics (01.12.2014)
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Association study of rare nonsynonymous variants of FTO in bipolar disorder
Curtis, Jake A, O'Brien, Niamh L, Curtis, David, Fiorentino, Alessia, McQuillin, Andrew
Published in Psychiatric genetics (01.06.2016)
Published in Psychiatric genetics (01.06.2016)
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Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia
Al Eissa, Mariam M., Fiorentino, Alessia, Sharp, Sally I., O'Brien, Niamh L., Wolfe, Kate, Giaroli, Giovanni, Curtis, David, Bass, Nicholas J., McQuillin, Andrew
Published in Annals of human genetics (01.03.2018)
Published in Annals of human genetics (01.03.2018)
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Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia
Al Eissa, Mariam M., Sharp, Sally I., O'Brien, Niamh L., Fiorentino, Alessia, Bass, Nicholas J., Curtis, David, McQuillin, Andrew
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2019)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2019)
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Modeling Down syndrome in cells: From stem cells to organoids
Gough, Gillian, O'Brien, Niamh L, Alic, Ivan, Goh, Pollyanna A, Yeap, Yee Jie, Groet, Jurgen, Nizetic, Dean, Murray, Aoife
Published in Progress in brain research (2020)
Published in Progress in brain research (2020)
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Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alić, Ivan, Goh, Pollyanna A., Murray, Aoife, Portelius, Erik, Gkanatsiou, Eleni, Gough, Gillian, Mok, Kin Y., Koschut, David, Brunmeir, Reinhard, Yeap, Yee Jie, O’Brien, Niamh L., Groet, Jürgen, Shao, Xiaowei, Havlicek, Steven, Dunn, N. Ray, Kvartsberg, Hlin, Brinkmalm, Gunnar, Hithersay, Rosalyn, Startin, Carla, Hamburg, Sarah, Phillips, Margaret, Pervushin, Konstantin, Turmaine, Mark, Wallon, David, Rovelet-Lecrux, Anne, Soininen, Hilkka, Volpi, Emanuela, Martin, Joanne E., Foo, Jia Nee, Becker, David L., Rostagno, Agueda, Ghiso, Jorge, Krsnik, Željka, Šimić, Goran, Kostović, Ivica, Mitrečić, Dinko, Francis, Paul T., Blennow, Kaj, Strydom, Andre, Hardy, John, Zetterberg, Henrik, Nižetić, Dean
Published in Molecular psychiatry (01.10.2021)
Published in Molecular psychiatry (01.10.2021)
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Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia
Leonenko, Ganna, Richards, Alexander L., Walters, James T., Pocklington, Andrew, Chambert, Kimberly, Al Eissa, Mariam M., Sharp, Sally I., O'Brien, Niamh L., Curtis, David, Bass, Nicholas J., McQuillin, Andrew, Hultman, Christina, Moran, Jennifer L., McCarroll, Steven A., Sklar, Pamela, Neale, Benjamin M., Holmans, Peter A., Owen, Michael J., Sullivan, Patrick F., O'Donovan, Michael C.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.10.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.10.2017)
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Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015
Zai, Gwyneth, Alberry, Bonnie, Arloth, Janine, Bánlaki, Zsófia, Bares, Cristina, Boot, Erik, Camilo, Caroline, Chadha, Kartikay, Chen, Qi, Cole, Christopher B, Cost, Katherine T, Crow, Megan, Ekpor, Ibene, Fischer, Sascha B, Flatau, Laura, Gagliano, Sarah, Kirli, Umut, Kukshal, Prachi, Labrie, Viviane, Lang, Maren, Lett, Tristram A, Maffioletti, Elisabetta, Maier, Robert, Mihaljevic, Marina, Mittal, Kirti, Monson, Eric T, O'Brien, Niamh L, Østergaard, Søren D, Ovenden, Ellen, Patel, Sejal, Peterson, Roseann E, Pouget, Jennie G, Rovaris, Diego L, Seaman, Lauren, Shankarappa, Bhagya, Tsetsos, Fotis, Vereczkei, Andrea, Wang, Chenyao, Xulu, Khethelo, Yuen, Ryan K C, Zhao, Jingjing, Zai, Clement C, Kennedy, James L
Published in Psychiatric genetics (01.12.2016)
Published in Psychiatric genetics (01.12.2016)
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Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alić, Ivan, Goh, Pollyanna A., Murray, Aoife, Portelius, Erik, Gkanatsiou, Eleni, Gough, Gillian, Mok, Kin Y., Koschut, David, Brunmeir, Reinhard, Yeap, Yee Jie, O’Brien, Niamh L., Groet, Jürgen, Shao, Xiaowei, Havlicek, Steven, Dunn, N. Ray, Kvartsberg, Hlin, Brinkmalm, Gunnar, Hithersay, Rosalyn, Startin, Carla, Hamburg, Sarah, Phillips, Margaret, Pervushin, Konstantin, Turmaine, Mark, Wallon, David, Rovelet-Lecrux, Anne, Soininen, Hilkka, Volpi, Emanuela, Martin, Joanne E., Foo, Jia Nee, Becker, David L., Rostagno, Agueda, Ghiso, Jorge, Krsnik, Željka, Šimić, Goran, Kostović, Ivica, Mitrečić, Dinko, Francis, Paul T., Blennow, Kaj, Strydom, Andre, Hardy, John, Zetterberg, Henrik, Nižetić, Dean
Published in Molecular psychiatry (01.10.2021)
Published in Molecular psychiatry (01.10.2021)
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A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder
Duan, Jubao, Shi, Jianxin, Fiorentino, Alessia, Leites, Catherine, Chen, Xiangning, Moy, Winton, Chen, Jingchun, Alexandrov, Boian S., Usheva, Anny, He, Deli, Freda, Jessica, O’Brien, Niamh L., Gejman, Pablo V., Sanders, Alan R., Duan, Jubao, Levinson, Douglas F., Shi, Jianxin, Buccola, Nancy G., Mowry, Bryan J., Freedman, Robert, Olincy, Ann, Amin, Farooq, Black, Donald W., Silverman, Jeremy M., Byerley, William F., Svrakic, Dragan M., Cloninger, C. Robert, Pato, Michele T., Sobell, Janet L., Medeiros, Helena, Abbott, Colony, Skar, Brooke, Buckley, Peter F., Bromet, Evelyn J., Escamilla, Michael A., Fanous, Ayman H., Lehrer, Douglas S., Macciardi, Fabio, Malaspina, Dolores, McCarroll, Steve A., Marder, Stephen R., Moran, Jennifer, Morley, Christopher P., Nicolini, Humberto, Perkins, Diana O., Purcell, Shaun M., Rapaport, Mark H., Sklar, Pamela, Smoller, Jordan W., Knowles, James A., Pato, Carlos N., McQuillin, Andrew, Sanders, Alan R., Gershon, Elliot S., DeLisi, Lynn E., Bishop, Alan R., Gurling, Hugh M.D., Pato, Michele T., Levinson, Douglas F., Kendler, Kenneth S., Pato, Carlos N., Gejman, Pablo V.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data
Fiorentino, Alessia, O'Brien, Niamh Louise, Locke, Devin Paul, McQuillin, Andrew, Jarram, Alexandra, Anjorin, Adebayo, Kandaswamy, Radhika, Curtis, David, Blizard, Robert Alan, Gurling, Hugh Malcolm Douglas
Published in Bipolar disorders (01.09.2014)
Published in Bipolar disorders (01.09.2014)
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Rare coding variants in ten genes confer substantial risk for schizophrenia
Singh, Tarjinder, Poterba, Timothy, Curtis, David, Akil, Huda, Al Eissa, Mariam, Barchas, Jack D., Bass, Nicholas, Bigdeli, Tim B., Breen, Gerome, Bromet, Evelyn J., Buckley, Peter F., Bunney, William E., Bybjerg-Grauholm, Jonas, Byerley, William F., Chapman, Sinéad B., Chen, Wei J., Churchhouse, Claire, Craddock, Nicholas, DeLisi, Lynn, Dodge, Sheila, Escamilla, Michael A., Eskelinen, Saana, Fanous, Ayman H., Faraone, Stephen V., Fiorentino, Alessia, Francioli, Laurent, Gabriel, Stacey B., Gage, Diane, Gagliano Taliun, Sarah A., Ganna, Andrea, Genovese, Giulio, Grove, Jakob, Hall, Mei-Hua, Heyne, Henrike O., Holi, Matti, Hougaard, David M., Howrigan, Daniel P., Huang, Hailiang, Hwu, Hai-Gwo, Kahn, René S., Kang, Hyun Min, Karczewski, Konrad J., Knowles, James A., Lee, Francis S., Lehrer, Douglas S., Lescai, Francesco, Marder, Stephen R., McCarroll, Steven A., McIntosh, Andrew M., Milani, Lili, Morley, Christopher P., Morris, Derek W., Mortensen, Preben Bo, Nordentoft, Merete, O’Brien, Niamh L., Olivares, Ana Maria, Ongur, Dost, Ouwehand, Willem H., Palmer, Duncan S., Paunio, Tiina, Quested, Digby, Rapaport, Mark H., Rees, Elliott, Rollins, Brandi, Satterstrom, F. Kyle, Schatzberg, Alan, Scolnick, Edward, Scott, Laura J., Sharp, Sally I., Sklar, Pamela, Smoller, Jordan W., Solomonson, Matthew, Stahl, Eli A., Stevens, Christine R., Suvisaari, Jaana, Watts, Nicholas A., Blackwood, Douglas H., Cohen, Bruce M., Corvin, Aiden P., Esko, Tõnu, Freimer, Nelson B., Glatt, Stephen J., Hultman, Christina M., McQuillin, Andrew, Palotie, Aarno, Pato, Carlos N., Pato, Michele T., Pulver, Ann E., St. Clair, David, Tsuang, Ming T., Vawter, Marquis P., Walters, James T., Werge, Thomas M., Ophoff, Roel A., Sullivan, Patrick F., Owen, Michael J., Boehnke, Michael, O’Donovan, Michael C., Neale, Benjamin M., Daly, Mark J.
Published in Nature (London) (21.04.2022)
Published in Nature (London) (21.04.2022)
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Journal Article
Rare coding variants in 10 genes confer substantial risk for schizophrenia
Singh, Tarjinder, Poterba, Timothy, Curtis, David, Akil, Huda, Al Eissa, Mariam, Barchas, Jack D., Bass, Nicholas, Bigdeli, Tim B., Breen, Gerome, Bromet, Evelyn J., Buckley, Peter F., Bunney, William E., Bybjerg-Grauholm, Jonas, Byerley, William F., Chapman, Sinéad B., Chen, Wei J., Churchhouse, Claire, Craddock, Nicholas, Cusick, Caroline M., DeLisi, Lynn, Dodge, Sheila, Escamilla, Michael A., Eskelinen, Saana, Fanous, Ayman H., Faraone, Stephen V., Fiorentino, Alessia, Francioli, Laurent, Gabriel, Stacey B., Gage, Diane, Taliun, Sarah A. Gagliano, Ganna, Andrea, Genovese, Giulio, Glahn, David C., Grove, Jakob, Hall, Mei-Hua, Hämäläinen, Eija, Heyne, Henrike O., Holi, Matti, Hougaard, David M., Howrigan, Daniel P., Huang, Hailiang, Hwu, Hai-Gwo, Kahn, René S., Kang, Hyun Min, Karczewski, Konrad J., Kirov, George, Knowles, James A., Lee, Francis S., Lehrer, Douglas S., Lescai, Francesco, Malaspina, Dolores, Marder, Stephen R., McCarroll, Steven A., McIntosh, Andrew M., Medeiros, Helena, Milani, Lili, Morley, Christopher P., Morris, Derek W., Bo Mortensen, Preben, Myers, Richard M., Nordentoft, Merete, O’Brien, Niamh L., Olivares, Ana Maria, Ongur, Dost, Ouwehand, Willem H., Palmer, Duncan S., Paunio, Tiina, Quested, Digby, Rapaport, Mark H., Rees, Elliott, Rollins, Brandi, Satterstrom, F. Kyle, Schatzberg, Alan, Scolnick, Edward, Scott, Laura J., Sharp, Sally I., Sklar, Pamela, Smoller, Jordan W., Sobell, Janet l., Solomonson, Matthew, Stevens, Christine R., Suvisaari, Jaana, Tiao, Grace, Watson, Stanley J., Watts, Nicholas A., Blackwood, Douglas H., Børglum, Anders D., Cohen, Bruce M., Corvin, Aiden P., Esko, Tõnu, Freimer, Nelson B., Glatt, Stephen J., Hultman, Christina M., McQuillin, Andrew, Palotie, Aarno, Pato, Carlos N., Pato, Michele T., Pulver, Ann E., St. Clair, David, Tsuang, Ming T.
Published in Nature (London) (01.04.2022)
Published in Nature (London) (01.04.2022)
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Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levelsResearch in context
Aoife Murray, Gillian Gough, Ana Cindrić, Frano Vučković, David Koschut, Vincenzo Borelli, Dražen J. Petrović, Ana Bekavac, Ante Plećaš, Valentina Hribljan, Reinhard Brunmeir, Julija Jurić, Maja Pučić-Baković, Anita Slana, Helena Deriš, Azra Frkatović, Jűrgen Groet, Niamh L. O’Brien, Hong Yu Chen, Yee Jie Yeap, Frederic Delom, Steven Havlicek, Luke Gammon, Sarah Hamburg, Carla Startin, Hana D’Souza, Dinko Mitrečić, Mijana Kero, Ljubica Odak, Božo Krušlin, Željka Krsnik, Ivica Kostović, Jia Nee Foo, Yuin-Han Loh, Norris Ray Dunn, Susana de la Luna, Tim Spector, Ingeborg Barišić, Michael S.C. Thomas, Andre Strydom, Claudio Franceschi, Gordan Lauc, Jasminka Krištić, Ivan Alić, Dean Nižetić
Published in EBioMedicine (01.08.2023)
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Published in EBioMedicine (01.08.2023)
Journal Article
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene-dose-sensitive AD-suppressor in human brain
Alic, Ivan, Goh, Pollyanna A, Murray, Aoife, Portelius, Erik, Gkanatsiou, Eleni, Gough, Gillian, Mok, Kin Y, Koschut, David, Brunmeir, Reinhard, Yeap, Yie Jie, O'brien, Niamh L, Groet, Jurgen, Shao, Xiaowei, Havlicek, Steven, Dunn, Norris R, Kvartsberg, Hlin, Brinkmalm, Gunnar, Hithersay, Rosalyn, Startin, Carla, Hamburg, Sarah, Phillips, Margaret, Pervushin, Konstantin, Turmaine, Mark, Wallon, David, Rovelet-Lecrux, Anne, Soininen, Hilkka, Volpi, Emanuela, Martin, Joanne E, Jia Nee Foo, Becker, David L, Rostagno, Agueda, Ghiso, Jorge, Krsnik, Zeljka, Simic, Goran, Kostovic, Ivica, Mitrecic, Dinko, Consortium, Londowns, Francis, Paul T, Blennow, Kaj, Strydom, Andre, Hardy, John, Zetterberg, Henrik, Nizetic, Dean
Published in bioRxiv (31.01.2020)
Published in bioRxiv (31.01.2020)
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