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An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
Mountjoy, Edward, Schmidt, Ellen M., Carmona, Miguel, Schwartzentruber, Jeremy, Peat, Gareth, Miranda, Alfredo, Fumis, Luca, Hayhurst, James, Buniello, Annalisa, Karim, Mohd Anisul, Wright, Daniel, Hercules, Andrew, Papa, Eliseo, Fauman, Eric B., Barrett, Jeffrey C., Todd, John A., Ochoa, David, Dunham, Ian, Ghoussaini, Maya
Published in Nature genetics (01.11.2021)
Published in Nature genetics (01.11.2021)
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Journal Article
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes
Schwartzentruber, Jeremy, Cooper, Sarah, Liu, Jimmy Z., Barrio-Hernandez, Inigo, Bello, Erica, Kumasaka, Natsuhiko, Young, Adam M. H., Franklin, Robin J. M., Johnson, Toby, Estrada, Karol, Gaffney, Daniel J., Beltrao, Pedro, Bassett, Andrew
Published in Nature genetics (01.03.2021)
Published in Nature genetics (01.03.2021)
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Journal Article
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics
Ghoussaini, Maya, Mountjoy, Edward, Carmona, Miguel, Peat, Gareth, Schmidt, Ellen M, Hercules, Andrew, Fumis, Luca, Miranda, Alfredo, Carvalho-Silva, Denise, Buniello, Annalisa, Burdett, Tony, Hayhurst, James, Baker, Jarrod, Ferrer, Javier, Gonzalez-Uriarte, Asier, Jupp, Simon, Karim, Mohd Anisul, Koscielny, Gautier, Machlitt-Northen, Sandra, Malangone, Cinzia, Pendlington, Zoe May, Roncaglia, Paola, Suveges, Daniel, Wright, Daniel, Vrousgou, Olga, Papa, Eliseo, Parkinson, Helen, MacArthur, Jacqueline A L, Todd, John A, Barrett, Jeffrey C, Schwartzentruber, Jeremy, Hulcoop, David G, Ochoa, David, McDonagh, Ellen M, Dunham, Ian
Published in Nucleic acids research (08.01.2021)
Published in Nucleic acids research (08.01.2021)
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Journal Article
Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
A map of transcriptional heterogeneity and regulatory variation in human microglia
Young, Adam M. H., Kumasaka, Natsuhiko, Calvert, Fiona, Hammond, Timothy R., Knights, Andrew, Panousis, Nikolaos, Park, Jun Sung, Schwartzentruber, Jeremy, Liu, Jimmy, Kundu, Kousik, Segel, Michael, Murphy, Natalia A., McMurran, Christopher E., Bulstrode, Harry, Correia, Jason, Budohoski, Karol P., Joannides, Alexis, Guilfoyle, Mathew R., Trivedi, Rikin, Kirollos, Ramez, Morris, Robert, Garnett, Matthew R., Timofeev, Ivan, Jalloh, Ibrahim, Holland, Katherine, Mannion, Richard, Mair, Richard, Watts, Colin, Price, Stephen J., Kirkpatrick, Peter J., Santarius, Thomas, Mountjoy, Edward, Ghoussaini, Maya, Soranzo, Nicole, Bayraktar, Omer A., Stevens, Beth, Hutchinson, Peter J., Franklin, Robin J. M., Gaffney, Daniel J.
Published in Nature genetics (01.06.2021)
Published in Nature genetics (01.06.2021)
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Journal Article
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
Fontebasso, Adam M, Papillon-Cavanagh, Simon, Schwartzentruber, Jeremy, Nikbakht, Hamid, Gerges, Noha, Fiset, Pierre-Olivier, Bechet, Denise, Faury, Damien, De Jay, Nicolas, Ramkissoon, Lori A, Corcoran, Aoife, Jones, David T W, Sturm, Dominik, Johann, Pascal, Tomita, Tadanori, Goldman, Stewart, Nagib, Mahmoud, Bendel, Anne, Goumnerova, Liliana, Bowers, Daniel C, Leonard, Jeffrey R, Rubin, Joshua B, Alden, Tord, Browd, Samuel, Geyer, J Russell, Leary, Sarah, Jallo, George, Cohen, Kenneth, Gupta, Nalin, Prados, Michael D, Carret, Anne-Sophie, Ellezam, Benjamin, Crevier, Louis, Klekner, Almos, Bognar, Laszlo, Hauser, Peter, Garami, Miklos, Myseros, John, Dong, Zhifeng, Siegel, Peter M, Malkin, Hayley, Ligon, Azra H, Albrecht, Steffen, Pfister, Stefan M, Ligon, Keith L, Majewski, Jacek, Jabado, Nada, Kieran, Mark W
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Journal Article
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
Khuong-Quang, Dong-Anh, Buczkowicz, Pawel, Rakopoulos, Patricia, Liu, Xiao-Yang, Fontebasso, Adam M., Bouffet, Eric, Bartels, Ute, Albrecht, Steffen, Schwartzentruber, Jeremy, Letourneau, Louis, Bourgey, Mathieu, Bourque, Guillaume, Montpetit, Alexandre, Bourret, Genevieve, Lepage, Pierre, Fleming, Adam, Lichter, Peter, Kool, Marcel, von Deimling, Andreas, Sturm, Dominik, Korshunov, Andrey, Faury, Damien, Jones, David T., Majewski, Jacek, Pfister, Stefan M., Jabado, Nada, Hawkins, Cynthia
Published in Acta neuropathologica (01.09.2012)
Published in Acta neuropathologica (01.09.2012)
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Journal Article
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Sawyer, Sarah L., Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A., Innes, A. Micheil, Boycott, Kym M., Moreau, Lisa A., Moilanen, Jukka S., Greenberg, Roger A.
Published in Cancer discovery (01.02.2015)
Published in Cancer discovery (01.02.2015)
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Journal Article
A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance
Anisul, Mohd, Shilts, Jarrod, Schwartzentruber, Jeremy, Hayhurst, James, Buniello, Annalisa, Shaikho Elhaj Mohammed, Elmutaz, Zheng, Jie, Holmes, Michael, Ochoa, David, Carmona, Miguel, Maranville, Joseph, Gaunt, Tom R, Emilsson, Valur, Gudnason, Vilmundur, McDonagh, Ellen M, Wright, Gavin J, Ghoussaini, Maya, Dunham, Ian
Published in eLife (17.08.2021)
Published in eLife (17.08.2021)
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Journal Article
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Southam, Lorraine, Gilly, Arthur, Süveges, Dániel, Farmaki, Aliki-Eleni, Schwartzentruber, Jeremy, Tachmazidou, Ioanna, Matchan, Angela, Rayner, Nigel W., Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria
Published in Nature communications (26.05.2017)
Published in Nature communications (26.05.2017)
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Journal Article
Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells
Lynall, Mary-Ellen, Soskic, Blagoje, Hayhurst, James, Schwartzentruber, Jeremy, Levey, Daniel F., Pathak, Gita A., Polimanti, Renato, Gelernter, Joel, Stein, Murray B., Trynka, Gosia, Clatworthy, Menna R., Bullmore, Ed
Published in Nature communications (15.10.2022)
Published in Nature communications (15.10.2022)
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Journal Article
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations
Liu, Xiao-Yang, Gerges, Noha, Korshunov, Andrey, Sabha, Nesrin, Khuong-Quang, Dong-Anh, Fontebasso, Adam M., Fleming, Adam, Hadjadj, Djihad, Schwartzentruber, Jeremy, Majewski, Jacek, Dong, Zhifeng, Siegel, Peter, Albrecht, Steffen, Croul, Sidney, Jones, David TW, Kool, Marcel, Tonjes, Martje, Reifenberger, Guido, Faury, Damien, Zadeh, Gelareh, Pfister, Stefan, Jabado, Nada
Published in Acta neuropathologica (01.11.2012)
Published in Acta neuropathologica (01.11.2012)
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Journal Article
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas
Fontebasso, Adam M., Schwartzentruber, Jeremy, Khuong-Quang, Dong-Anh, Liu, Xiao-Yang, Sturm, Dominik, Korshunov, Andrey, Jones, David T. W., Witt, Hendrik, Kool, Marcel, Albrecht, Steffen, Fleming, Adam, Hadjadj, Djihad, Busche, Stephan, Lepage, Pierre, Montpetit, Alexandre, Staffa, Alfredo, Gerges, Noha, Zakrzewska, Magdalena, Zakrzewski, Krzystof, Liberski, Pawel P., Hauser, Peter, Garami, Miklos, Klekner, Almos, Bognar, Laszlo, Zadeh, Gelareh, Faury, Damien, Pfister, Stefan M., Jabado, Nada, Majewski, Jacek
Published in Acta neuropathologica (01.05.2013)
Published in Acta neuropathologica (01.05.2013)
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Journal Article
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Published in Orphanet journal of rare diseases (17.09.2012)
Published in Orphanet journal of rare diseases (17.09.2012)
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Journal Article
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
Martin, Emmanuel, Palmic, Noé, Sanquer, Sylvia, Lenoir, Christelle, Hauck, Fabian, Mongellaz, Cédric, Fabrega, Sylvie, Nitschké, Patrick, Esposti, Mauro Degli, Schwartzentruber, Jeremy, Taylor, Naomi, Majewski, Jacek, Jabado, Nada, Wynn, Robert F., Picard, Capucine, Fischer, Alain, Arkwright, Peter D., Latour, Sylvain
Published in Nature (London) (12.06.2014)
Published in Nature (London) (12.06.2014)
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Journal Article
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Smith, Amanda C, Mears, Alan J, Bunker, Ryan, Ahmed, Afsana, MacKenzie, Malcolm, Schwartzentruber, Jeremy A, Beaulieu, Chandree L, Ferretti, Emanuela, Majewski, Jacek, Bulman, Dennis E, Celik, Fatma Cakmak, Boycott, Kym M, Graham, Gail E
Published in Journal of medical genetics (01.07.2014)
Published in Journal of medical genetics (01.07.2014)
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Journal Article
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection
Yuki, Kyoko E., Marei, Hadir, Fiskin, Evgenij, Eva, Megan M., Gopal, Angelica A., Schwartzentruber, Jeremy A., Majewski, Jacek, Cellier, Mathieu, Mandl, Judith N., Vidal, Silvia M., Malo, Danielle, Dikic, Ivan
Published in Nature microbiology (01.09.2019)
Published in Nature microbiology (01.09.2019)
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Journal Article
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation
Moshous, Despina, Martin, Emmanuel, Carpentier, Wassila, Lim, Annick, Callebaut, Isabelle, Canioni, Danielle, Hauck, Fabian, Majewski, Jacek, Schwartzentruber, Jeremy, Nitschke, Patrick, Sirvent, Nicolas, Frange, Pierre, Picard, Capucine, Blanche, Stéphane, Revy, Patrick, Fischer, Alain, Latour, Sylvain, Jabado, Nada, de Villartay, Jean-Pierre
Published in Journal of allergy and clinical immunology (01.06.2013)
Published in Journal of allergy and clinical immunology (01.06.2013)
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Journal Article
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article