Somatic mutagenesis in satellite cells associates with human skeletal muscle aging von Franco, Irene, Johansson, Anna, Olsson, Karl, Vrtačnik, Peter, Lundin, Pär, Helgadottir, Hafdis T., Larsson, Malin, Revêchon, Gwladys, Bosia, Carla, Pagnani, Andrea, Provero, Paolo, Gustafsson, Thomas, Fischer, Helene, Eriksson, Maria

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Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type von Franco, Irene, Helgadottir, Hafdis T, Moggio, Aldo, Larsson, Malin, Vrtačnik, Peter, Johansson, Anna, Norgren, Nina, Lundin, Pär, Mas-Ponte, David, Nordström, Johan, Lundgren, Torbjörn, Stenvinkel, Peter, Wennberg, Lars, Supek, Fran, Eriksson, Maria

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes von Helgadottir, Hafdis T., Thutkawkorapin, Jessada, Lagerstedt-Robinson, Kristina, Lindblom, Annika

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Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing von Wincent, Josephine, Helgadóttir, Hafdís T., Sergouniotis, Fotios, Salazar Mantero, Angelo, Carvalho, Claudia M. B., Malmgren, Helena, Lindstrand, Anna, Iwarsson, Erik

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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability von Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Björck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Helgadóttir, Hafdís T., Hellström-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindelöf, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Johansson Soller, Maria, Pettersson, Maria, Nordgren, Ann

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Unravelling genetic variants of a swedish family with high risk of prostate cancer von Barilla, Serena, Lindblom, Annika, Helgadottir, Hafdis T

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Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma von Stacey, Simon N., Sulem, Patrick, Gudbjartsson, Daniel F., Jonasdottir, Aslaug, Thorleifsson, Gudmar, Gudjonsson, Sigurjon A., Masson, Gisli, Gudmundsson, Julius, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Thorisdottir, Kristin, Ragnarsson, Rafn, Fuentelsaz, Victoria, Corredera, Cristina, Grasa, Matilde, Planelles, Dolores, Sanmartin, Onofre, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Johannsdottir, Hrefna, Helgadottir, Hafdis T., Thorsteinsdottir, Unnur, Kong, Augustine, Vogel, Ulla, Kumar, Rajiv, Nagore, Eduardo, Mayordomo, José I., Rafnar, Thorunn, Olafsson, Jon H., Stefansson, Kari

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disord... von Ek, Marlene, Nilsson, Daniel, Engvall, Martin, Malmgren, Helena, Thonberg, Håkan, Pettersson, Maria, Anderlid, Britt-Marie, Hammarsjö, Anna, Helgadottir, Hafdis T, Arnardottir, Snjolaug, Naess, Karin, Nennesmo, Inger, Paucar, Martin, Hjartarson, Helgi Thor, Press, Rayomand, Solders, Göran, Sejersen, Thomas, Lindstrand, Anna, Kvarnung, Malin

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Whole-Exome Sequencing of Germline Variants in Non- BRCA Families with Hereditary Breast Cancer von Liu, Yaxuan, Helgadottir, Hafdis T, Kharaziha, Pedram, Choi, Jungmin, López-Giráldez, Francesc, Mane, Shrikant M, Höiom, Veronica, Juhlin, Carl Christofer, Larsson, Catharina, Bajalica-Lagercrantz, Svetlana

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Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease von Huttenlocher, Johanna, Stefansson, Hreinn, Steinberg, Stacy, Helgadottir, Hafdis T, Sveinbjörnsdóttir, Sigurlaug, Riess, Olaf, Bauer, Peter, Stefansson, Kari

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Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes von Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Sulem, Patrick, Helgason, Hannes, Grarup, Niels, Sigurdsson, Asgeir, Helgadottir, Hafdis T, Johannsdottir, Hrefna, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Justesen, Johanne M, Harder, Marie N, Jørgensen, Marit E, Christensen, Cramer, Brandslund, Ivan, Sandbæk, Annelli, Lauritzen, Torsten, Vestergaard, Henrik, Linneberg, Allan, Jørgensen, Torben, Hansen, Torben, Daneshpour, Maryam S, Fallah, Mohammad-Sadegh, Hreidarsson, Astradur B, Sigurdsson, Gunnar, Azizi, Fereidoun, Benediktsson, Rafn, Masson, Gisli, Helgason, Agnar, Kong, Augustine, Gudbjartsson, Daniel F, Pedersen, Oluf, Thorsteinsdottir, Unnur, Stefansson, Kari

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HLA class II sequence variants influence tuberculosis risk in populations of European ancestry von Sveinbjornsson, Gardar, Gudbjartsson, Daniel F, Halldorsson, Bjarni V, Kristinsson, Karl G, Gottfredsson, Magnus, Barrett, Jeffrey C, Gudmundsson, Larus J, Blondal, Kai, Gylfason, Arnaldur, Gudjonsson, Sigurjon Axel, Helgadottir, Hafdis T, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Karason, Ari, Kardum, Ljiljana Bulat, Knežević, Jelena, Kristjansson, Helgi, Kristjansson, Mar, Love, Arthur, Luo, Yang, Magnusson, Olafur T, Sulem, Patrick, Kong, Augustine, Masson, Gisli, Thorsteinsdottir, Unnur, Dembic, Zlatko, Nejentsev, Sergey, Blondal, Thorsteinn, Jonsdottir, Ingileif, Stefansson, Kari

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Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits von Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Sulem, Patrick, Gudbjartsson, Daniel F., Sigurdsson, Asgeir, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Oddsson, Asmundur, Helgason, Agnar, Magnusson, Olafur T., Walters, G. Bragi, Frigge, Michael L., Helgadottir, Hafdis T., Johannsdottir, Hrefna, Bergsteinsdottir, Kristin, Ogmundsdottir, Margret H., Center, Jacqueline R., Nguyen, Tuan V., Eisman, John A., Christiansen, Claus, Steingrimsson, Erikur, Jonasson, Jon G., Tryggvadottir, Laufey, Eyjolfsson, Gudmundur I., Theodors, Asgeir, Jonsson, Thorvaldur, Ingvarsson, Thorvaldur, Olafsson, Isleifur, Rafnar, Thorunn, Kong, Augustine, Sigurdsson, Gunnar, Masson, Gisli, Thorsteinsdottir, Unnur, Stefansson, Kari

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Mutations in BRIP1 confer high risk of ovarian cancer von Rafnar, Thorunn, Stefansson, Kari, Gudbjartsson, Daniel F, Sulem, Patrick, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Besenbacher, Soren, Lundin, Pär, Stacey, Simon N, Gudmundsson, Julius, Magnusson, Olafur T, le Roux, Louise, Orlygsdottir, Gudbjorg, Helgadottir, Hafdis T, Johannsdottir, Hrefna, Gylfason, Arnaldur, Tryggvadottir, Laufey, Jonasson, Jon G, de Juan, Ana, Ortega, Eugenia, Ramon-Cajal, Jose M, García-Prats, Maria D, Mayordomo, Carlos, Panadero, Angeles, Rivera, Fernando, Aben, Katja K H, van Altena, Anne M, Massuger, Leon F A G, Aavikko, Mervi, Kujala, Paula M, Staff, Synnöve, Aaltonen, Lauri A, Olafsdottir, Kristrun, Bjornsson, Johannes, Kong, Augustine, Salvarsdottir, Anna, Saemundsson, Hafsteinn, Olafsson, Karl, Benediktsdottir, Kristrun R, Gulcher, Jeffrey, Masson, Gisli, Kiemeney, Lambertus A, Mayordomo, Jose I, Thorsteinsdottir, Unnur

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A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene von Hammar, Björn, Paulsson, Sofia, Helgadottir, Hafdis T., Albinsson, John, Naumovska, Magdalena, Sheikh, Rafi, Kvarnung, Malin

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Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31 von Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Helgadottir, Hafdis T, Bomer, Nils, Metrustry, Sarah, Bierma-Zeinstra, S, Strijbosch, Annelieke M, Evangelou, Evangelos, Hart, Deborah, Beekman, Marian, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Eiriksson, Finnur F, Thorsteinsdottir, Margret, Frigge, Michael L, Kong, Augustine, Gudjonsson, Sigurjon A, Magnusson, Olafur T, Masson, Gisli, Hofman, Albert, Arden, Nigel K, Ingvarsson, Thorvaldur, Lohmander, Stefan, Kloppenburg, Margreet, Rivadeneira, Fernando, Nelissen, Rob G H H, Spector, Tim, Uitterlinden, Andre, Slagboom, P Eline, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Valdes, Ana M, Meulenbelt, Ingrid, van Meurs, Joyce, Jonsson, Helgi, Stefansson, Kari

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Identification of known and novel familial cancer genes in Swedish colorectal cancer families von Helgadottir, Hafdis T., Thutkawkorapin, Jessada, Rohlin, Anna, Nordling, Margareta, Lagerstedt‐Robinson, Kristina, Lindblom, Annika

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Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins von Sola-Carvajal, Agustín, Revêchon, Gwladys, Helgadottir, Hafdis T., Whisenant, Daniel, Hagblom, Robin, Döhla, Julia, Katajisto, Pekka, Brodin, David, Fagerström-Billai, Fredrik, Viceconte, Nikenza, Eriksson, Maria

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Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient von Helgadottir, Hafdis T, Lundin, Pär, Wallén Arzt, Emelie, Lindström, Anna-Karin, Graff, Caroline, Eriksson, Maria

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Identification of low-frequency variants associated with gout and serum uric acid levels von Sulem, Patrick, Stefansson, Kari, Gudbjartsson, Daniel F, Walters, G Bragi, Helgadottir, Hafdis T, Helgason, Agnar, Gudjonsson, Sigurjon A, Zanon, Carlo, Besenbacher, Soren, Bjornsdottir, Gyda, Magnusson, Olafur T, Magnusson, Gisli, Hjartarson, Eirikur, Saemundsdottir, Jona, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Holm, Hilma, Karason, Ari, Rafnar, Thorunn, Stefansson, Hreinn, Andreassen, Ole A, Pedersen, Jesper H, Pack, Allan I, de Visser, Marieke C H, Kiemeney, Lambertus A, Geirsson, Arni J, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Kong, Augustine, Masson, Gisli, Jonsson, Helgi, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif

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