Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma von 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 von 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 von 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) von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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

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

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BESTIMMUNGSMETHODE von FRENGEN, JOMAR, N-7020 TRONDHEIM, NO

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Identification of novel splice variants of the human catalytic subunit cβ of cAMP‐dependent protein kinase von Ørstavik, Sigurd, Reinton, Nils, Frengen, Eirik, Langeland, Bjørn Tore, Jahnsen, Tore, Skålhegg, Bjørn S.

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TESTVERFAHREN, DAS ZWEI VONEINANDER UNTERSCHEIDBARE PARTIKELTUPEN VERWENDET von FRENGEN, JOMAR, N-7020 TRONDHEIM, NO

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