Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma by Peña-Pérez, Lucía, Frengen, Nicolai, Hauenstein, Julia, Gran, Charlotte, Gustafsson, Charlotte, Eisfeldt, Jesper, Kierczak, Marcin, Taborsak-Lines, Fanny, Olsen, Remi-André, Wallblom, Ann, Krstic, Aleksandra, Ewels, Philip, Lindstrand, Anna, Månsson, Robert

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T-RHEX-RNAseq - a tagmentation-based, rRNA blocked, random hexamer primed RNAseq method for generating stranded RNAseq libraries directly from very low numbers of lysed cells by Gustafsson, Charlotte, Hauenstein, Julia, Frengen, Nicolai, Krstic, Aleksandra, Luc, Sidinh, Månsson, Robert

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The di-leucine motif in the host defense peptide LL-37 is essential for initiation of autophagy in human macrophages by Rekha, Rokeya Sultana, Padhi, Avinash, Frengen, Nicolai, Hauenstein, Julia, Végvári, Ákos, Agerberth, Birgitta, Månsson, Robert, Guðmundsson, Guðmundur H., Bergman, Peter

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Low dose venetoclax as a single agent treatment of plasma cell malignancies harboring t(11;14) by Nahi, Hareth, Kashif, Muhammad, Klimkowska, Monika, Karvouni, Maria, Wallblom, Ann, Gran, Charlotte, Hauenstein, Julia, Frengen, Nicolai, Gustafsson, Charlotte, Afram, Gabriel, Uttervall, Katarina, Lund, Johan, Månsson, Robert, Wagner, Arnika K., Alici, Evren

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FOXO Dictates Initiation of B Cell Development and Myeloid Restriction in Common Lymphoid Progenitors by Peña-Pérez, Lucía, Kharazi, Shabnam, Frengen, Nicolai, Krstic, Aleksandra, Bouderlique, Thibault, Hauenstein, Julia, He, Minghui, Somuncular, Ece, Li Wang, Xiaoze, Dahlberg, Carin, Gustafsson, Charlotte, Johansson, Ann-Sofie, Walfridsson, Julian, Kadri, Nadir, Woll, Petter, Kierczak, Marcin, Qian, Hong, Westerberg, Lisa, Luc, Sidinh, Månsson, Robert

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FOXO1 and FOXO3 Cooperatively Regulate Innate Lymphoid Cell Development by Luu, Thuy T., Søndergaard, Jonas Nørskov, Peña-Pérez, Lucía, Kharazi, Shabnam, Krstic, Aleksandra, Meinke, Stephan, Schmied, Laurent, Frengen, Nicolai, Heshmati, Yaser, Kierczak, Marcin, Bouderlique, Thibault, Wagner, Arnika Kathleen, Gustafsson, Charlotte, Chambers, Benedict J., Achour, Adnane, Kutter, Claudia, Höglund, Petter, Månsson, Robert, Kadri, Nadir

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In BTK, phosphorylated Y223 in the SH3 domain mirrors catalytic activity, but does not in fl uence biological function by Estupinan, HY, Bouderlique, T, He, C, Berglof, A, Cappelleri, A, Frengen, N, Zain, R, Karlsson, MCI, Mansson, R, Smith, CIE

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Phased WGS by direct library preparation from 240 FACS sorted cells for comprehensive genetics in multiple myeloma by Gran, C., Pena-Perez, L., Eisfeldt, J., Gustafsson, C., Bruchfeld, J. Borg, Hauenstein, J., Frengen, N., Taborsak-Lines, Fanny, Olsen, R., Ewels, P., Lindstrand, A., Nahi, H., Mansson, R.

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CD49b identifies functionally and epigenetically distinct subsets of lineage-biased hematopoietic stem cells by Somuncular, Ece, Hauenstein, Julia, Khalkar, Prajakta, Johansson, Anne-Sofie, Dumral, Özge, Frengen, Nicolai S., Gustafsson, Charlotte, Mocci, Giuseppe, Su, Tsu-Yi, Brouwer, Hugo, Trautmann, Christine L., Vanlandewijck, Michael, Orkin, Stuart H., Månsson, Robert, Luc, Sidinh

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Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease by Ventham, N. T., Kennedy, N. A., Adams, A. T., Kalla, R., Heath, S., O'Leary, K. R., Drummond, H., Wilson, D. C., Gut, I. G., Nimmo, E. R., Satsangi, J.

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Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions by Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M E, Tzoulis, Charalampos

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A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl by Belengeanu, V, Gamage, T H, Farcas, S, Stoian, M, Andreescu, N, Belengeanu, A, Frengen, E, Misceo, D

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Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype by Skauli, Nadia, Wallace, Sean, Chiang, Samuel C C, Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T, Strømme, Petter, Frengen, Eirik, Misceo, Doriana

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy by Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Buckley, Reuben M., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivas P., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko, Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand

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Analysis of Systemic Epigenetic Alterations in Inflammatory Bowel Disease: Defining Geographical, Genetic and Immune-Inflammatory influences on the Circulating Methylome by Kalla, Rahul, Adams, Alex T, Nowak, Jan K, Bergemalm, Daniel, Vatn, Simen, Ventham, Nicholas T, Kennedy, Nicholas A, Ricanek, Petr, Lindstrom, Jonas, Söderholm, Johan, Pierik, Marie, D'Amato, Mauro, Gomollón, Fernando, Olbjørn, Christine, Richmond, Rebecca, Relton, Caroline, Jahnsen, Jørgen, Vatn, Morten H, Halfvarson, Jonas, Satsangi, Jack

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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome by Chen, Chun-An, Crutcher, Emeline, Gill, Harinder, Nelson, Tanya N, Robak, Laurie A, Jongmans, Marjolijn C.J, Pfundt, Rolph, Prasad, Chitra, Berard, Roberta A, Fannemel, Madeleine, Frengen, Eirik, Misceo, Doriana, Ramsey, Keri, Yang, Yaping, Schaaf, Christian P, Wang, Xia, CAUSES, Study, C4RCD, Research Group

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A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl by Belengeanu, V., Gamage, T.H., Farcas, S., Stoian, M., Andreescu, N., Belengeanu, A., Frengen, E., Misceo, D.

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