Analysis of the Cob(II)alamin – 5′-Deoxy-3′,4′-Anhydroadenosyl Radical Triplet Spin System in the Active Site of Diol Dehydrase

по Mansoorabadi, Steven O., Magnusson, Olafur Th., Poyner, Russell R., Frey, Perry A., Reed, George H.
Опубликовано 2006

Quinone biogenesis: Structure and mechanism of PqqC, the final catalyst in the production of pyrroloquinoline quinone

по Magnusson, Olafur Th., Toyama, Hirohide, Saeki, Megumi, Rojas, Ana, Reed, John C., Liddington, Robert C., Klinman, Judith P., Schwarzenbacher, Robert
Опубликовано 2004

Multi-nucleotide de novo Mutations in Humans

по Besenbacher, Søren, Sulem, Patrick, Helgason, Agnar, Helgason, Hannes, Kristjansson, Helgi, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Gudbjartsson, Daniel F., Stefansson, Kari
Опубликовано в: PLoS Genet (2016)

Sequence variants from whole genome sequencing a large group of Icelanders

по Gudbjartsson, Daniel F, Sulem, Patrick, Helgason, Hannes, Gylfason, Arnaldur, Gudjonsson, Sigurjon A, Zink, Florian, Oddson, Asmundur, Magnusson, Gisli, Halldorsson, Bjarni V, Hjartarson, Eirikur, Sigurdsson, Gunnar Th., Kong, Augustine, Helgason, Agnar, Masson, Gisli, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Stefansson, Kari
Опубликовано в: Sci Data (2015)

Rate of de novo mutations, father’s age, and disease risk

по Kong, Augustine, Frigge, Michael L., Masson, Gisli, Besenbacher, Soren, Sulem, Patrick, Magnusson, Gisli, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Wong, Wendy, Sigurdsson, Gunnar, Walters, G. Bragi, Steinberg, Stacy, Helgason, Hannes, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Helgason, Agnar, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Stefansson, Kari
Опубликовано 2012

Physical and neuro-behavioural determinants of reproductive onset and success

по Day, Felix R., Helgason, Hannes, Chasman, Daniel I., Rose, Lynda M., Loh, Po-Ru, Scott, Robert A., Helgason, Agnar, Kong, Augustine, Masson, Gisli, Magnusson, Olafur Th., Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Buring, Julie E., Ridker, Paul M., Sulem, Patrick, Stefansson, Kari, Ong, Ken K., Perry, John R.B.
Опубликовано в: Nat Genet (2016)

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

по Toonen, Lodewijk J. A., Overzier, Maurice, Evers, Melvin M., Leon, Leticia G., van der Zeeuw, Sander A. J., Mei, Hailiang, Kielbasa, Szymon M., Goeman, Jelle J., Hettne, Kristina M., Magnusson, Olafur Th., Poirel, Marion, Seyer, Alexandre, ‘t Hoen, Peter A. C., van Roon-Mom, Willeke M. C.
Опубликовано в: Mol Neurodegener (2018)

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

по Arnadottir, Gudny A., Jensson, Brynjar O., Marelsson, Sigurdur E., Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P., Benonisdottir, Stefania, Gudjonsson, Sigurjon A., Masson, Gisli, Thorisson, Gudmundur A., Saemundsdottir, Jona, Magnusson, Olafur Th., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari
Опубликовано в: BMC Med Genet (2017)

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

по Holm, Hilma, Gudbjartsson, Daniel F, Sulem, Patrick, Masson, Gisli, Helgadottir, Hafdis Th, Zanon, Carlo, Magnusson, Olafur Th, Helgason, Agnar, Saemundsdottir, Jona, Gylfason, Arnaldur, Stefansdottir, Hrafnhildur, Gretarsdottir, Solveig, Matthiasson, Stefan E, Thorgeirsson, Guðmundur, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Stefansson, Hreinn, Werge, Thomas, Rafnar, Thorunn, Kiemeney, Lambertus A, Parvez, Babar, Muhammad, Raafia, Roden, Dan M, Darbar, Dawood, Thorleifsson, Gudmar, Walters, G Bragi, Kong, Augustine, Thorsteinsdottir, Unnur, Arnar, David O, Stefansson, Kari
Опубликовано 2011

Whole genome characterization of sequence diversity of 15,220 Icelanders

по Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Besenbacher, Soren, Frigge, Michael L., Stacey, Simon N., Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Опубликовано в: Sci Data (2017)

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

по Bjornsdottir, Gyda, Ivarsdottir, Erna V., Bjarnadottir, Kristbjorg, Benonisdottir, Stefania, Gylfadottir, Sandra Sif, Arnadottir, Gudny A., Benediktsson, Rafn, Halldorsson, Gisli Hreinn, Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Kristinsdottir, Anna Margret, Magnusson, Olafur Th., Masson, Gisli, Melsted, Pall, Rafnar, Thorunn, Sigurdsson, Asgeir, Sigurdsson, Gunnar, Skuladottir, Astros, Steinthorsdottir, Valgerdur, Styrkarsdottir, Unnur, Thorgeirsson, Gudmundur, Thorleifsson, Gudmar, Vikingsson, Arnor, Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Hreinn, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Kari
Опубликовано в: Nat Commun (2019)

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

по Arnadottir, Gudny A., Norddahl, Gudmundur L., Gudmundsdottir, Steinunn, Agustsdottir, Arna B., Sigurdsson, Snaevar, Jensson, Brynjar O., Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V., Oddsson, Asmundur, Kristjansson, Ragnar P., Sulem, Gerald, Alexandersson, Kristjan F., Juliusdottir, Thorhildur, Gudmundsson, Kjartan R., Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Magnusson, Olafur Th., Masson, Gisli, Orvar, Kjartan B., Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, Stefansson, Kari
Опубликовано в: Nat Commun (2018)

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

по Gudmundsson, Julius, Sulem, Patrick, Gudbjartsson, Daniel F., Masson, Gisli, Agnarsson, Bjarni A., Benediktsdottir, Kristrun R., Sigurdsson, Asgeir, Magnusson, Olafur Th., Gudjonsson, Sigurjon A., Magnusdottir, Droplaug N., Johannsdottir, Hrefna, Helgadottir, Hafdis Th., Stacey, Simon N., Jonasdottir, Adalbjorg, Olafsdottir, Stefania B., Thorleifsson, Gudmar, Jonasson, Jon G., Tryggvadottir, Laufey, Navarrete, Sebastian, Fuertes, Fernando, Helfand, Brian T., Hu, Qiaoyan, Csiki, Irma E., Mates, Ioan N., Jinga, Viorel, Aben, Katja K. H., van Oort, Inge M., Vermeulen, Sita H., Donovan, Jenny L., Hamdy, Freddy C., Ng, Chi-Fai, Chiu, Peter K.F., Lau, Kin-Mang, Ng, Maggie C.Y., Gulcher, Jeffrey R., Kong, Augustine, Catalona, William J., Mayordomo, Jose I., Einarsson, Gudmundur V., Barkardottir, Rosa B., Jonsson, Eirikur, Mates, Dana, Neal, David E., Kiemeney, Lambertus A., Thorsteinsdottir, Unnur, Rafnar, Thorunn, Stefansson, Kari
Опубликовано 2012