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Selected publications


2021

  • Lopez de Lapuente Portilla A, Ekdahl L, Cafaro C, Ali Z , Miharada N, Thorleifsson G,  Žemaitis, Antton Lamarca Arrizabalaga K, Thodberg M, Pertesi M, Dhapola P, Bao E, Niroula A, Bali D, Norddahl G, Ugidos Damboriena N, Sankaran V, Karlsson G, Thorsteinsdottir U, Larsson J, Stefansson K, Nilsson B. "Genome-wide association study on 13,167 individuals identifies regulators of hematopoietic stem and progenitor cell levels in human blood", submitted. bioRxiv

  • Mattsson J, Ekdahl L, Junghus F, Ajore R, Erlandsson E, Niroula A, Pertesi M, Frendéus B, TeigeI, Nilsson B. “Accelerating target deconvolution for therapeutic antibody candidates using highly parallelized genome editing”, Nature Communications, 2021 Feb 24;12(1):1277. PubMed
  • Catalano C, Blocka J, Huhn S, Paramasivam N, Schlesner M, Weinhold N, Sijmons R, de Jong M,  Langer C, Preuss K-D, Pfreundschuh M, Nilsson B, Goldschmidt H, Bandapalli O, Hemminki K, Försti A. “Characterization of rare germline variants in familial multiple myeloma”, Blood Cancer Journal, accepted. PubMed


2020

  • Bao E, Nandakumar S, Liao X, Bick A, Karjalainen J, Tabaka M, Gan O, Havulinna A, Kiiskinen T, Lareau C, Lopez de Lapuente Portilla A, Li B, Emdin C, Codd V, Nelson C, Walker C, Churchhouse C, de la Chapelle A, Klein D, Nilsson B, Wilson P, Cho K, Pyarajan S, Gaziano M, Samani J, FinnGen, 23andMe Research Team, Million Veteran Program, Regev A, Palotie A, Neale B, Dick J, Natarajan P, O’Donnell C, Daly M, Milyavsky M, Kathiresan S, Sankaran V. “Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells”, Nature, 2020 Oct 586(7831):769-775. PubMed

  • Tan Grahn HM, Niroula A, Végvári A, Oburoglu L, Pertesi M, Warsi S, Safi F, Miharada N, Capellera Garcia S, Siva K, Liu Y, Rörby E, Nilsson B, Zubarev R, Karlsson S. “S100A6-Akt axis as a critical regulator mechanism in hematopoietic stem cells”, Leukemia, 2020 Dec;34(12):343

  • Went M, Cornish A, Law P, Kinnersley B, van Duin M, Weinhold N, Thomsen H, Hansson M, Sonneveld P, Morgan G, Hemminki K, Nilsson B, Kaiser M, Houlston R. “Search for multiple myeloma risk factors using Mendelian randomization”, Blood Advances, 2020 May 26;4(10):2172-2179. PubMed

  • Pertesi M, Went M, Hansson M, Hemminki K, Houlston R, Nilsson B. “Genetic predisposition for multiple myeloma”, Leukemia, 2020 Mar;34(3):697-708. PubMed


2019

  • Niroula A, Ajore R, Nilsson B. “Robust and nonparametric analysis of massively parallel reporter assays”, Bioinformatics 2019 Jul 29 [Epub ahead of print]. PubMed

  • Pertesi M, Ekdahl L, Palm A, Johnsson E, Järvstråt L, Wihlborg A-K, Nilsson B. “Identification of essential genes constraining the extent of homozygous deletions in cancer genomes”, Communications Biology 2019 July 19; 2:262. PubMed

  • Pertesi M, Vallée M, Wei X, Revuelta M, Galia P, Demangel D, Oliver J, Foll M, Chen S, Perrial E, Garderet L, Corre J, Leleu X, Boyle E, Decaux O, Rodon P, Kolb B, Slama B, Mineur P, Voog E, Bris C, Fontan J, Maigre M, Beaumont M, Azais I, Sobol H, Vignon M, Royer B, Perrot A, Fuzibet J-G, Dorvaux V, Anglaret B, Cony-Makhoul P, Berthou C, Desquesnes F, Pegourie B, Leyvraz S, Mosser L, Frenkiel N, Augeul-Meunier K, Leduc I, Leyronnas C, Voillat L, Casassus P, Mathiot C, Cheron N, Paubelle E, Moreau P, Bignon Y-J, Joly B, Bourquard P, Caillot D, Naman H, Rigaudeau S, Marit G, Macro M, Lambrecht I, Cliquennois M, Vincent L, Helias P, Avet-Loiseau H, Moreno V, Reis R, Varkonyi J, Kruszewski M, Juul Vangsted A, Jurczyszyn A, Maciej Zaucha J, Sainz J, Krawczyk-Kulis M, Wątek M, Pelosini M, Iskierka-Jażdżewska E, Grząśko N, Martinez-Lopez J, Jerez A, Campa D, Buda G, Lesueur F, Dudziński M, García-Sanz R, Nagler A, Rymko M, Jamroziak K, Butrym A, Canzian F, Obazee O, Nilsson B, Klein R, Lipkin S, McKay J, Dumontet C. “Exome sequencing identifies germline mutations in DIS3 in familial multiple myeloma”, Leukemia 2019;Sep 33(9):2324-2330. PubMed


2018

  • Ali M, Wihlborg A-K, Ajore R, Swaminathan B, Niroula A, Johnsson E, Stephens O, Morgan G, Meissner T, Turesson I, Gullberg U, Goldschmidt H, Hansson M, Hemminki K, Nahi H, Waage A, Weinhold N, Nilsson B. "The multiple myeloma risk allele at 5q15 confers lower expression of ELL2 and increased expression of ribosomal genes", Nature Communications 2018 Apr 25; 9:1649. PubMed

  • Went M, Sud A, Försti A, Halvarsson B-M, Weinhold N, Kimber S, van  Duin M, Thorleifsson G, Holroyd A, Johnson D, Li N, Orlando G, Law P, Ali M, Chen B, Mitchell J, Gudbjartsson D, Kuiper R, Stephens O, Bertsch U, Broderick P, Campo C, Bandapalli O, Einsele H, Gregory W, Gullberg U, Hillengass J, Hoffmann P, Jackson G, Jöckel K, Johnsson E, Kristinsson S, Mellqvist U-H, Nahi H, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Swerdlow A, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, the  PRACTICAL  consortium, Nickel J, Nöthen M, Rafnar T, Ross F, Inacio  da  Silva  Filho M, Thomsen H, Turesson I, Vangsted A, Frost  Andersen N, Waage A, Walker B, Wihlborg A-K, Broyl A, Davies F, Thorsteinsdottir U, Langer C, Hansson M, Goldschmidt H, Kaiser M, Sonneveld P, Stefansson K, Morgan G, Hemminki K**, Nilsson B** (equal contribution; shared last-authorship), Houlston R**, “Identification of multiple risk loci and potential regulatory mechanisms influencing susceptibility to multiple myeloma”, Nature Communications 2018 Sep 13:9(1):3707. PubMed


2017

  • Jonsson S, Sveinbjörnsson G, Lopez de Lapuente Portilla A, Swaminathan B, Plomp R, Dekkers G, Ajore R, Ali M, Bentlage A, Elmer E, Eyjolfsson G, Gudjonsson S, Gullberg U, Halldorsson B, Hansson M, Holm H, Johansson Å, Johnsson E, Jonasdottir A, Ludviksson B, Oddsson A, Olafsson I, Olafsson S, Sigurdardottir O, Stefansdottir L, Masson G, Sulem P, Wuhrer M, Wihlborg A-K, Thorleifsson G, Gudbjartsson D, Thorsteinsdottir U, Vidarsson G, Jonsdottir I**, Nilsson B** (equal contribution; shared last-authorship), Stefansson K**. "Identification of sequence variants influencing immunoglobulin levels", Nature Genetics 2017 Aug;49(8). PubMed

  • Ajore R, Raiser D, Jöud M, Boidol B, Mar B, Saksena G, Weinstock D, Armstrong S, Ellis S, Ebert B, Nilsson B. "Ribosomal gene haploinsufficiency is a common vulnerability in human cancer, particularly in concert with TP53 mutations", EMBO Molecular Medicine, 2017 Apr;9(4):498-507.  PubMed

  • Halvarsson B-M, Wihlborg A-K, Ali M, Lemonakis K, Johnsson E, Sougnez C, Turesson I, Hemminki K, Waage A, Golub T, Gullberg U, Hansson M, Nilsson B. "Direct evidence for polygenic inheritance in familial multiple myeloma", Blood Advances 2017 1:619-623. PubMed

 

 

Swaminathan B, Thorleifsson G, Jöud M, Ali M, Johnsson E, Ajore R, Sulem P, Halvarsson B-M, Eyjolfsson G, Haraldsdottir V, Hultman C, Ingelsson E, Kristinsson S, Kähler A, Lenhoff S, Mellqvist U-H, Månsson R, Nelander S, Olafsson I, Sigurdardottir O, Steingrimsdottir H, Vangsted A, Vogel U, Waage A, Nahi H, Gudbjartsson D, Rafnar T, Turesson I, Gullberg U, Stefansson K, Hansson M, Thorsteinsdottir U, Nilsson B. "Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma", Nature Communications. 2015;6:7213. PubMed

Frigyesi I, Adolfsson J, Ali M, Kronborg-Christophersen M, Johnsson E, Turesson I, Gullberg U, Hansson M, and Nilsson B. “Robust isolation of malignant plasma cells in multiple myeloma”, Blood 2014, Feb 27;123(9):1336-40. PubMed

Nilsson B, Johansson M, Al-Shahrour F, Carpenter A, Ebert B. “Ultrasome: aberration caller for DNA copy number studies of ultra-high resolution”, Bioinformatics 2009;25(8):1078-9. PubMed