Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes von 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

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An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci von 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

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Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics von 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

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A map of transcriptional heterogeneity and regulatory variation in human microglia von 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.

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Mutations in PIK3R1 Cause SHORT Syndrome von 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

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Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma von 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

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K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas von 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

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CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation von 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

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype von 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

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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits von 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

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A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance von 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

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Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations von 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

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Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells von 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

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Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas von 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

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Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia von 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

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia von Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M

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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome von 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.

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CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection von 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

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome von 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.

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Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation von Moshous, Despina, MD, PhD, Martin, Emmanuel, PhD, Carpentier, Wassila, PhD, Lim, Annick, PhD, Callebaut, Isabelle, PhD, Canioni, Danielle, MD, PhD, Hauck, Fabian, MD, Majewski, Jacek, PhD, Schwartzentruber, Jeremy, MSc, Nitschke, Patrick, PhD, Sirvent, Nicolas, MD, PhD, Frange, Pierre, MD, Picard, Capucine, MD, PhD, Blanche, Stéphane, MD, Revy, Patrick, PhD, Fischer, Alain, MD, PhD, Latour, Sylvain, PhD, Jabado, Nada, MD, PhD, de Villartay, Jean-Pierre, PhD

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