Search

Your search keyword '"Jensson, Brynjar O."' showing total 50 results
Start Over Author "Jensson, Brynjar O."
50 results on '"Jensson, Brynjar O."'

1. Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

Author

Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Oskarsson, Gudjon R., Styrkarsdottir, Unnur, Moore, Kristjan H. S., Isberg, Salvor, Halldorsson, Gisli H., Sveinbjornsson, Gardar, Westergaard, David, Nielsen, Henriette Svarre, Fridriksdottir, Run, Jensson, Brynjar O., Arnadottir, Gudny A., Jonsson, Hakon, Sturluson, Arni, Snaebjarnarson, Audunn S., Andreassen, Ole A., Walters, G. Bragi, Nyegaard, Mette, Erikstrup, Christian, Steingrimsdottir, Thora, Lie, Rolv T., Melsted, Pall, Jonsdottir, Ingileif, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Saemundsdottir, Jona, Magnusson, Olafur Th., Banasik, Karina, Sorensen, Erik, Masson, Gisli, Pedersen, Ole Birger, Tryggvadottir, Laufey, Haavik, Jan, Ostrowski, Sisse Rye, Stefansson, Hreinn, Holm, Hilma, Rafnar, Thorunn, Gudbjartsson, Daniel F., Sulem, Patrick, and Stefansson, Kari

Published
2024
Full Text
View/download PDF

2. Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease

Author

Skuladottir, Astros Th., Tragante, Vinicius, Sveinbjornsson, Gardar, Helgason, Hannes, Sturluson, Arni, Bjornsdottir, Anna, Jonsson, Palmi, Palmadottir, Vala, Sveinsson, Olafur A., Jensson, Brynjar O., Gudjonsson, Sigurjon A., Ivarsdottir, Erna V., Gisladottir, Rosa S., Gunnarsson, Arni F., Walters, G. Bragi, Jonsdottir, Gudrun A., Thorgeirsson, Thorgeir E., Bjornsdottir, Gyda, Holm, Hilma, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Hreinn, and Stefansson, Kari

Published
2024
Full Text
View/download PDF

3. Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

Author

Kristjansson, Ragnar P., Oskarsson, Gudjon R., Skuladottir, Astros, Oddsson, Asmundur, Rognvaldsson, Solvi, Sveinbjornsson, Gardar, Lund, Sigrun H., Jensson, Brynjar O., Styrmisdottir, Edda L., Halldorsson, Gisli H., Ferkingstad, Egil, Eldjarn, Grimur Hjorleifsson, Beyter, Doruk, Kristmundsdottir, Snædis, Juliusson, Kristinn, Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Snorradottir, Margret H., Tragante, Vinicius, Stefansdottir, Lilja, Ivarsdottir, Erna V., Bjornsdottir, Gyda, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Ludviksson, Bjorn R., Onundarson, Pall T., Saevarsdottir, Saedis, Melsted, Pall, Norddahl, Gudmundur L., Bjornsdottir, Unnur S., Olafsdottir, Thorunn, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Published
2023
Full Text
View/download PDF

4. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Author

Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Steinthorsdottir, Valgerdur, Halldorsson, Gisli H., Atlason, Bjarni A., Oskarsson, Gudjon R., Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O., Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A., Beyter, Doruk, Moore, Kristjan H. S., Thordardottir, Helga B., Kristmundsdottir, Snaedis, Stefansson, Olafur A., Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G. Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A., Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.

Published
2023
Full Text
View/download PDF

5. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Author

Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Steinthorsdottir, Valgerdur, Halldorsson, Gisli H., Atlason, Bjarni A., Oskarsson, Gudjon R., Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O., Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A., Beyter, Doruk, Moore, Kristjan H. S., Thordardottir, Helga B., Kristmundsdottir, Snaedis, Stefansson, Olafur A., Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G. Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A., Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.

Published
2023
Full Text
View/download PDF

6. The sequences of 150,119 genomes in the UK Biobank

Author

Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, and Stefansson, Kari

Published
2022
Full Text
View/download PDF

7. Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies

Author

Hjorleifsson, Kristjan E., Rognvaldsson, Solvi, Jonsson, Hakon, Agustsdottir, Arna B., Andresdottir, Margret, Birgisdottir, Kolbrun, Eiriksson, Ogmundur, Eythorsson, Elias S., Fridriksdottir, Run, Georgsson, Gudmundur, Gudmundsson, Kjartan R., Gylfason, Arnaldur, Haraldsdottir, Gudbjorg, Jensson, Brynjar O., Jonasdotti, Adalbjorg, Jonasdottir, Aslaug, Josefsdottir, Kamilla S., Kristinsdottir, Nina, Kristjansdottir, Borghildur, Kristjansson, Thordur, Magnusdottir, Droplaug N., Palsson, Runolfur, le Roux, Louise, Sigurbergsdottir, Gudrun M., Sigurdsson, Asgeir, Sigurdsson, Martin I., Sveinbjornsson, Gardar, Thorarensen, Emil Aron, Thorbjornsson, Bjarni, Thordardottir, Marianna, Helgason, Agnar, Holm, Hilma, Jonsdottir, Ingileif, Jonsson, Frosti, Magnusson, Olafur T., Masson, Gisli, Norddahl, Gudmundur L., Saemundsdottir, Jona, Sulem, Patrick, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Melsted, Pall, and Stefansson, Kari

Published
2022
Full Text
View/download PDF

8. Genetic architecture of band neutrophil fraction in Iceland

Author

Oskarsson, Gudjon R., Magnusson, Magnus K., Oddsson, Asmundur, Jensson, Brynjar O., Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Rognvaldsson, Solvi, Halldorsson, Gisli H., Sveinbjornsson, Gardar, Ivarsdottir, Erna V., Stefansdottir, Lilja, Ferkingstad, Egil, Norland, Kristjan, Tragante, Vinicius, Saemundsdottir, Jona, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurjonsdottir, Svanhvit, Petursdottir, Karen O., Davidsson, Olafur B., Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Vidarsson, Brynjar, Sigurdardottir, Olof, Masson, Gisli, Gudbjartsson, Daniel F., Jonsdottir, Ingileif, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2022
Full Text
View/download PDF

9. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

Author

Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Gisladottir, Svanborg, Simon, Mariella T., Arnthorsson, Asgeir O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Ivarsdottir, Erna V., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Barrick, Rebekah, Saemundsdottir, Jona, le Roux, Louise, Oskarsson, Gudjon R., Asmundsson, Jurate, Steffensen, Thora, Gudmundsson, Kjartan R., Ludvigsson, Petur, Jonsson, Jon J., Masson, Gisli, Jonsdottir, Ingileif, Holm, Hilma, Jonasson, Jon G., Magnusson, Olafur Th., Thorarensen, Olafur, Abdenur, Jose, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2022
Full Text
View/download PDF

10. Large-scale integration of the plasma proteome with genetics and disease

Author

Ferkingstad, Egil, Sulem, Patrick, Atlason, Bjarni A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Styrmisdottir, Edda L., Gunnarsdottir, Kristbjorg, Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Bjarni V., Jensson, Brynjar O., Zink, Florian, Halldorsson, Gisli H., Masson, Gisli, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Juliusson, Kristinn, Magnusson, Magnus K., Magnusson, Olafur Th., Fridriksdottir, Run, Saevarsdottir, Saedis, Gudjonsson, Sigurjon A., Stacey, Simon N., Rognvaldsson, Solvi, Eiriksdottir, Thjodbjorg, Olafsdottir, Thorunn A., Steinthorsdottir, Valgerdur, Tragante, Vinicius, Ulfarsson, Magnus O., Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Lund, Sigrun H., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2021
Full Text
View/download PDF

11. Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

Author

Fridriksdottir, Run, Jonsson, Arnar J., Jensson, Brynjar O., Sverrisson, Kristinn O., Arnadottir, Gudny A., Skarphedinsdottir, Sigurbjorg J., Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Oskarsson, Gudjon R., Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H., Indridason, Einar P., Sigurdsson, Stefan B., Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sigurdsson, Theodor S., Sulem, Patrick, Sigurdsson, Martin I., and Stefansson, Kari

Published
2021
Full Text
View/download PDF

12. Homozygosity for a stop-gain variant in CCDC201causes primary ovarian insufficiency

Author

Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Oskarsson, Gudjon R., Styrkarsdottir, Unnur, Moore, Kristjan H. S., Isberg, Salvor, Halldorsson, Gisli H., Sveinbjornsson, Gardar, Westergaard, David, Nielsen, Henriette Svarre, Fridriksdottir, Run, Jensson, Brynjar O., Arnadottir, Gudny A., Jonsson, Hakon, Sturluson, Arni, Snaebjarnarson, Audunn S., Andreassen, Ole A., Walters, G. Bragi, Nyegaard, Mette, Erikstrup, Christian, Steingrimsdottir, Thora, Lie, Rolv T., Melsted, Pall, Jonsdottir, Ingileif, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Saemundsdottir, Jona, Magnusson, Olafur Th., Banasik, Karina, Sorensen, Erik, Masson, Gisli, Pedersen, Ole Birger, Tryggvadottir, Laufey, Haavik, Jan, Ostrowski, Sisse Rye, Stefansson, Hreinn, Holm, Hilma, Rafnar, Thorunn, Gudbjartsson, Daniel F., Sulem, Patrick, and Stefansson, Kari

Abstract

Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered1. Here through GWAS meta-analysis under the recessive model of 174,329 postmenopausal women from Iceland, Denmark, the United Kingdom (UK; UK Biobank) and Norway, we study low-frequency variants with a large effect on AOM. We discovered that women homozygous for the stop-gain variant rs117316434(A) in CCDC201(p.(Arg162Ter), minor allele frequency ~1%) reached menopause 9 years earlier than other women (P= 1.3 × 10−15). The genotype is present in one in 10,000 northern European women and leads to primary ovarian insufficiency in close to half of them. Consequently, homozygotes have fewer children, and the age at last childbirth is 5 years earlier (P= 3.8 × 10−5). The CCDC201gene was only found in humans in 2022 and is highly expressed in oocytes. Homozygosity for CCDC201loss-of-function has a substantial impact on female reproductive health, and homozygotes would benefit from reproductive counseling and treatment for symptoms of early menopause.

Published
2024
Full Text
View/download PDF

14. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Published
2024

15. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024

16. Molecular benchmarks of a SARS-CoV-2 epidemic

Author

Jonsson, Hakon, Magnusson, Olafur T., Melsted, Pall, Berglund, Jonas, Agustsdottir, Arna B., Eiríksdottir, Berglind, Fridriksdottir, Run, Garðarsdottir, Elisabet Eir, Georgsson, Gudmundur, Gretarsdottir, Olafia S., Guðmundsson, Kjartan R., Gunnarsdottir, Thora Rosa, Eggertsson, Hannes, Gylfason, Arnaldur, Holm, Hilma, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonsson, Frosti, Josefsdottir, Kamilla S., Thordardottir, Marianna, Kristinsson, Karl G., Kristjánsson, Þórður, Magnusdottir, Droplaug N., Roux, Louise le, Saemundsdottir, Jona, Sigurdsson, Asgeir, Sigmundsdottir, Gudrun, Sveinbjornsson, Gardar, Rognvaldsson, Solvi, Eiriksson, Ogmundur, Magnusson, Magnus Karl, Sveinsdottir, Kristin Eva, Sveinsdottir, Maney, Thorarensen, Emil Aron, Thorbjornsson, Bjarni, Löve, Arthur, Norddahl, Gudmundur L., Jonsdottir, Ingileif, Sulem, Patrick, Masson, Gisli, Moller, Alma, Gudnason, Thorolfur, Kristjansson, Mar, Helgason, Agnar, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2021
Full Text
View/download PDF

17. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

Author

Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2021
Full Text
View/download PDF

18. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, primary, Wang, Qin, additional, Bayat, Allan, additional, Battig, Mark R., additional, Zhou, Yijing, additional, Bosch, Daniëlle G.M., additional, van Haaften, Gijs, additional, Granger, Leslie, additional, Petersen, Andrea K., additional, Pérez-Jurado, Luis A., additional, Aznar-Laín, Gemma, additional, Aneja, Anushree, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Schwarz, Martin, additional, Kremlíková Pourová, Radka, additional, Sedlacek, Zdenek, additional, Keena, Beth A., additional, March, Michael E., additional, Hou, Cuiping, additional, O'Connor, Nora, additional, Bhoj, Elizabeth J., additional, Harr, Margaret H., additional, Lemire, Gabrielle, additional, Boycott, Kym M., additional, Towne, Meghan C., additional, Li, Megan, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Parker, Michael J., additional, Faghfoury, Hanna, additional, Parsley, Lea Kristin, additional, Agolini, Emanuele, additional, Dentici, Maria Lisa, additional, Novelli, Antonio, additional, Wright, Meredith S., additional, Palmquist, Rachel, additional, Lai, Khanh, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Iacomino, Michele, additional, Zara, Federico, additional, Cooper, Annina, additional, Maarup, Timothy J., additional, Byler, Melissa, additional, Lebel, Robert Roger, additional, Balci, Tugce B., additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Douglas, Jessica, additional, Nowak, Catherine B., additional, Afenjar, Alexandra, additional, Hoyer, Juliane, additional, Keren, Boris, additional, Maas, Saskia M., additional, Motazacker, Mahdi M., additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, McCormick, Elizabeth M., additional, Falk, Marni, additional, Ruggiero, Sarah M., additional, Helbig, Ingo, additional, Møller, Rikke S., additional, Tessarollo, Lino, additional, Tomassoni-Ardori, Francesco, additional, Palko, Mary Ellen, additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Ganapathi, Mythily, additional, Gelb, Bruce D., additional, Jobanputra, Vaidehi, additional, Wilson, Ashley, additional, Greally, John, additional, Jacquemont, Sébastien, additional, Jizi, Khadijé, additional, Ange-Line, Bruel, additional, Quelin, Chloé, additional, Misra, Vinod K., additional, Chick, Erika, additional, Romano, Corrado, additional, Greco, Donatella, additional, Arena, Alessia, additional, Morleo, Manuela, additional, Nigro, Vincenzo, additional, Seyama, Rie, additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Taira, Ryoji, additional, Tashiro, Katsuya, additional, Sakai, Yasunari, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Wagner, Michael, additional, Kutsche, Barbara, additional, Hurst, Anna C.E., additional, Thompson, Michelle L., additional, Schmidt, Ryan J., additional, Randolph, Linda M., additional, Spillmann, Rebecca C., additional, Shashi, Vandana, additional, Higginbotham, Edward J., additional, Cordeiro, Dawn, additional, Carnevale, Amanda, additional, Costain, Gregory, additional, Khan, Tayyaba, additional, Funalot, Benoît, additional, Tran Mau-Them, Frederic, additional, Fernandez Garcia Moya, Luis, additional, García-Miñaúr, Sixto, additional, Osmond, Matthew, additional, Chad, Lauren, additional, Quercia, Nada, additional, Carrasco, Diana, additional, Li, Chumei, additional, Sanchez-Valle, Amarilis, additional, Kelley, Meghan, additional, Nizon, Mathilde, additional, Jensson, Brynjar O., additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Gorokhova, Svetlana, additional, Busa, Tiffany, additional, Rio, Marlène, additional, Hadj Abdallah, Hamza, additional, Lesieur-Sebellin, Marion, additional, Amiel, Jeanne, additional, Pingault, Véronique, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Philippe, Christophe, additional, Fatus-Fauconnier, Clemence, additional, Friend, Kathryn, additional, Halligan, Rebecca K., additional, Biswas, Sunita, additional, Rosser, Jane M.R., additional, Shoubridge, Cheryl, additional, Corbett, Mark A., additional, Barnett, Christopher, additional, Gecz, Jozef, additional, Leppig, Kathleen A., additional, Slavotinek, Anne, additional, Marcelis, Carlo, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Slegtenhorst, Marjon A., additional, Brooks, Alice S., additional, Cogne, Benjamin, additional, Rambaud, Thomas, additional, Tümer, Zeynep, additional, Zackai, Elaine H., additional, Akizu, Naiara, additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2023
Full Text
View/download PDF

19. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Published
2019
Full Text
View/download PDF

20. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author

Oskarsson, Gudjon R., Oddsson, Asmundur, Magnusson, Magnus K., Kristjansson, Ragnar P., Halldorsson, Gisli H., Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V., Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M., Lee, Amy L., Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K., Davidsson, Olafur B., Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L., Asselbergs, Folkert W., Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2020
Full Text
View/download PDF

21. Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland

Author

Sveinbjornsson, Gardar, primary, Benediktsdottir, Bara D., additional, Sigfusson, Gunnlaugur, additional, Norland, Kristjan, additional, Davidsson, Olafur B., additional, Thorolfsdottir, Rosa B., additional, Tragante, Vinicius, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Katrinardottir, Hildigunnur, additional, Fridriksdottir, Run, additional, Gudmundsdottir, Hallbera, additional, Aegisdottir, Hildur M., additional, Fridriksson, Brynjar, additional, Thorgeirsson, Gudmundur, additional, Magnusson, Vidar, additional, Oddsson, Asmundur, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Holm, Hilma, additional, Arnar, David O., additional, and Stefansson, Kari, additional

Published
2023
Full Text
View/download PDF

23. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

Author

Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M., Jonsson, Stefan, Stefansson, Olafur A., Norddahl, Gudmundur L., Zink, Florian, Arnadottir, Gudny A., Gunnarsson, Bjarni, Halldorsson, Gisli H., Helgadottir, Anna, Jensson, Brynjar O., Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Sverrisson, David A., Masson, Gisli, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Holm, Hilma, Jonsdottir, Ingileif, Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Bjornsson, Einar S., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, and Stefansson, Kari

Published
2018
Full Text
View/download PDF

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

Author

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, and Stefansson, Kari

Published
2018
Full Text
View/download PDF

25. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Author

Oskarsson, Gudjon R., Kristjansson, Ragnar P., Lee, Amy L., Sveinbjornsson, Gardar, Magnusson, Magnus K., Ivarsdottir, Erna V., Benonisdottir, Stefania, Oddsson, Asmundur, Davidsson, Olafur B., Saemundsdottir, Jona, Halldorsson, Gisli H., Arthur, Joseph, Arnadottir, Gudny A., Masson, Gisli, Jensson, Brynjar O., Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2018
Full Text
View/download PDF

26. A rare missense variant in NR1H4 associates with lower cholesterol levels

Author

Deaton, Aimee M., Sulem, Patrick, Nioi, Paul, Benonisdottir, Stefania, Ward, Lucas D., Davidsson, Olafur B., Lao, Socheata, Helgadottir, Anna, Fan, Fan, Jensson, Brynjar O., Norddahl, Gudmundur L., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Kristjansson, Ragnar P., Oddsson, Asmundur, Arnadottir, Gudny A., Jonsson, Hakon, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Bjornsson, Einar S., Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Thorgeirsson, Gudmundur, Masson, Gisli, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Holm, Hilma, Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2018
Full Text
View/download PDF

27. Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies

Author

Hjorleifsson, Kristjan E, primary, Rognvaldsson, Solvi, additional, Jonsson, Hakon, additional, Agustsdottir, Arna B, additional, Andresdottir, Margret, additional, Birgisdottir, Kolbrun, additional, Eiriksson, Ogmundur, additional, Eythorsson, Elias S, additional, Fridriksdottir, Run, additional, Georgsson, Gudmundur, additional, Gudmundsson, Kjartan R, additional, Gylfason, Arnaldur, additional, Haraldsdottir, Gudbjorg, additional, Jensson, Brynjar O, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Josefsdottir, Kamilla S, additional, Kristinsdottir, Nina, additional, Kristjansdottir, Borghildur, additional, Kristjansson, Thordur, additional, Magnusdottir, Droplaug N, additional, Palsson, Runolfur, additional, Roux, Louise le, additional, Sigurbergsdottir, Gudrun M, additional, Sigurdsson, Asgeir, additional, Sigurdsson, Martin I, additional, Sveinbjornsson, Gardar, additional, Thorarensen, Emil Aron, additional, Thorbjornsson, Bjarni, additional, Thordardottir, Marianna, additional, Helgason, Agnar, additional, Holm, Hilma, additional, Jonsdottir, Ingileif, additional, Jonsson, Frosti, additional, Magnusson, Olafur T, additional, Masson, Gisli, additional, Norddahl, Gudmundur L, additional, Saemundsdottir, Jona, additional, Sulem, Patrick, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Melsted, Pall, additional, and Stefansson, Kari, additional

Published
2021
Full Text
View/download PDF

28. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Author

den Hollander, Bibiche, primary, Rasing, Anne, additional, Post, Merel A., additional, Klein, Willemijn M., additional, Oud, Machteld M., additional, Brands, Marion M., additional, de Boer, Lonneke, additional, Engelke, Udo F. H., additional, van Essen, Peter, additional, Fuchs, Sabine A., additional, Haaxma, Charlotte A., additional, Jensson, Brynjar O., additional, Kluijtmans, Leo A. J., additional, Lengyel, Anna, additional, Lichtenbelt, Klaske D., additional, Østergaard, Elsebet, additional, Peters, Gera, additional, Salvarinova, Ramona, additional, Simon, Marleen E. H., additional, Stefansson, Kari, additional, Thorarensen, Ólafur, additional, Ulmen, Ulrike, additional, Coene, Karlien L. M., additional, Willemsen, Michèl A., additional, Lefeber, Dirk J., additional, and Karnebeek, Clara D. M. van, additional

Published
2021
Full Text
View/download PDF

29. NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

Author

den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F.H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A.J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E.H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L.M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D.M.van, den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F.H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A.J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E.H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L.M., Willemsen, Michèl A., Lefeber, Dirk J., and Karnebeek, Clara D.M.van

Abstract

Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role in biological processes such as brain and skeletal development. Here, we present an observational cohort study to delineate the genetic, biochemical, and clinical phenotype and assess possible correlations. Methods: Medical and laboratory records were reviewed with retrospective extraction and analysis of genetic, biochemical, and clinical data (2016–2020). Results: Nine NANS-CDG patients (nine families, six countries) referred to the Radboudumc CDG Center of Expertise were included. Phenotyping confirmed the hallmark features including intellectual developmental disorder (IDD) (n = 9/9; 100%), facial dysmorphisms (n = 9/9; 100%), neurologic impairment (n = 9/9; 100%), short stature (n = 8/9; 89%), skeletal dysplasia (n = 8/9; 89%), and short limbs (n = 8/9; 89%). Newly identified features include ophthalmological abnormalities (n = 6/9; 67%), an abnormal septum pellucidum (n = 6/9; 67%), (progressive) cerebral atrophy and ventricular dilatation (n = 5/9; 56%), gastrointestinal dysfunction (n = 5/9; 56%), thrombocytopenia (n = 5/9; 56%), and hypo–low-density lipoprotein cholesterol (n = 4/9; 44%). Biochemically, elevated urinary excretion of N-acetylmannosamine (ManNAc) is pathognomonic, the concentrations of which show a significant correlation with clinical severity. Genotypically, eight novel NANS variants were identified. Three severely affected patients harbored identical compound heterozygous pathogenic variants, one of whom was initiated on experimental prenatal and postnatal treatment with oral sialic acid. This patient showed markedly better psychomotor development than the other two genotypically identical males. Conclusions: ManNAc screening should be considered in all patients with IDD, short stature with

Published
2021

30. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Author

Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica, den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, van Karnebeek, Clara D M, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica, den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, and van Karnebeek, Clara D M

Published
2021

31. Actionable Genotypes and Life Span in Iceland.

Author

Jensson, Brynjar O., Stefansson, Kari, and Sulem, Patrick

Abstract

The authors reply to queries regarding the causes of death among male carriers of the p.Asn257LysfsTer17 founder variant in Breast Cancer2, clarifying that their study excluded prostate cancer from the analysis. They discuss the impact of participant knowledge about the genetic status of the variant on survival and life span, highlighting a shorter median survival among carriers compared to non-carriers, which supports concerns about immortal bias in the analysis.

Published
2024
Full Text
View/download PDF

32. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author

Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2020

33. Humoral Immune Response to SARS-CoV-2 in Iceland

Author

Gudbjartsson, Daniel F., primary, Norddahl, Gudmundur L., additional, Melsted, Pall, additional, Gunnarsdottir, Kristbjorg, additional, Holm, Hilma, additional, Eythorsson, Elias, additional, Arnthorsson, Asgeir O., additional, Helgason, Dadi, additional, Bjarnadottir, Kristbjorg, additional, Ingvarsson, Ragnar F., additional, Thorsteinsdottir, Brynja, additional, Kristjansdottir, Steinunn, additional, Birgisdottir, Kolbrun, additional, Kristinsdottir, Anna M., additional, Sigurdsson, Martin I., additional, Arnadottir, Gudny A., additional, Ivarsdottir, Erna V., additional, Andresdottir, Margret, additional, Jonsson, Frosti, additional, Agustsdottir, Arna B., additional, Berglund, Jonas, additional, Eiriksdottir, Berglind, additional, Fridriksdottir, Run, additional, Gardarsdottir, Elisabet E., additional, Gottfredsson, Magnus, additional, Gretarsdottir, Olafia S., additional, Gudmundsdottir, Steinunn, additional, Gudmundsson, Kjartan R., additional, Gunnarsdottir, Thora R., additional, Gylfason, Arnaldur, additional, Helgason, Agnar, additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonsson, Hakon, additional, Kristjansson, Thordur, additional, Kristinsson, Karl G., additional, Magnusdottir, Droplaug N., additional, Magnusson, Olafur T., additional, Olafsdottir, Lovisa B., additional, Rognvaldsson, Solvi, additional, le Roux, Louise, additional, Sigmundsdottir, Gudrun, additional, Sigurdsson, Asgeir, additional, Sveinbjornsson, Gardar, additional, Sveinsdottir, Kristin E., additional, Sveinsdottir, Maney, additional, Thorarensen, Emil A., additional, Thorbjornsson, Bjarni, additional, Thordardottir, Marianna, additional, Saemundsdottir, Jona, additional, Kristjansson, S. Hjortur, additional, Josefsdottir, Kamilla S., additional, Masson, Gisli, additional, Georgsson, Gudmundur, additional, Kristjansson, Mar, additional, Moller, Alma, additional, Palsson, Runolfur, additional, Gudnason, Thorolfur, additional, Thorsteinsdottir, Unnur, additional, Jonsdottir, Ingileif, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2020
Full Text
View/download PDF

34. Spread of SARS-CoV-2 in the Icelandic Population

Author

Gudbjartsson, Daniel F., primary, Helgason, Agnar, additional, Jonsson, Hakon, additional, Magnusson, Olafur T., additional, Melsted, Pall, additional, Norddahl, Gudmundur L., additional, Saemundsdottir, Jona, additional, Sigurdsson, Asgeir, additional, Sulem, Patrick, additional, Agustsdottir, Arna B., additional, Eiriksdottir, Berglind, additional, Fridriksdottir, Run, additional, Gardarsdottir, Elisabet E., additional, Georgsson, Gudmundur, additional, Gretarsdottir, Olafia S., additional, Gudmundsson, Kjartan R., additional, Gunnarsdottir, Thora R., additional, Gylfason, Arnaldur, additional, Holm, Hilma, additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonsson, Frosti, additional, Josefsdottir, Kamilla S., additional, Kristjansson, Thordur, additional, Magnusdottir, Droplaug N., additional, le Roux, Louise, additional, Sigmundsdottir, Gudrun, additional, Sveinbjornsson, Gardar, additional, Sveinsdottir, Kristin E., additional, Sveinsdottir, Maney, additional, Thorarensen, Emil A., additional, Thorbjornsson, Bjarni, additional, Löve, Arthur, additional, Masson, Gisli, additional, Jonsdottir, Ingileif, additional, Möller, Alma D., additional, Gudnason, Thorolfur, additional, Kristinsson, Karl G., additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2020
Full Text
View/download PDF

35. Early Spread of SARS-Cov-2 in the Icelandic Population

Author

Gudbjartsson, Daniel F, primary, Helgason, Agnar, additional, Jonsson, Hakon, additional, Magnusson, Olafur T, additional, Melsted, Pall, additional, Norddahl, Gudmundur L, additional, Saemundsdottir, Jona, additional, Sigurdsson, Asgeir, additional, Sulem, Patrick, additional, Agustsdottir, Arna B, additional, Eiriksdottir, Berglind, additional, Fridriksdottir, Run, additional, Gardarsdottir, Elisabet E, additional, Georgsson, Gudmundur, additional, Gretarsdottir, Olafia S, additional, Gudmundsson, Kjartan R, additional, Gunnarsdottir, Thora R, additional, Gylfason, Arnaldur, additional, Holm, Hilma, additional, Jensson, Brynjar O, additional, Jonasdottir, Aslaug, additional, Jonsson, Frosti, additional, Josefsdottir, Kamilla S, additional, Kristjansson, Thordur, additional, Magnusdottir, Droplaug N, additional, Roux, Louise le, additional, Sigmundsdottir, Gudrun, additional, Sveinbjornsson, Gardar, additional, Sveinsdottir, Kristin E, additional, Sveinsdottir, Maney, additional, Thorarensen, Emil A, additional, Thorbjornsson, Bjarni, additional, Löve, Arthur, additional, Masson, Gisli, additional, Jonsdottir, Ingileif, additional, Moller, Alma, additional, Gudnason, Thorolfur, additional, Kristinsson, Karl G, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2020
Full Text
View/download PDF

36. Sequence variants associating with urinary biomarkers

Author

Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2019

37. Sequence variants associating with urinary biomarkers

Author

Benonisdottir, Stefania, primary, Kristjansson, Ragnar P, additional, Oddsson, Asmundur, additional, Steinthorsdottir, Valgerdur, additional, Mikaelsdottir, Evgenia, additional, Kehr, Birte, additional, Jensson, Brynjar O, additional, Arnadottir, Gudny A, additional, Sulem, Gerald, additional, Sveinbjornsson, Gardar, additional, Kristmundsdottir, Snaedis, additional, Ivarsdottir, Erna V, additional, Tragante, Vinicius, additional, Gunnarsson, Bjarni, additional, Runolfsdottir, Hrafnhildur Linnet, additional, Arthur, Joseph G, additional, Deaton, Aimee M, additional, Eyjolfsson, Gudmundur I, additional, Davidsson, Olafur B, additional, Asselbergs, Folkert W, additional, Hreidarsson, Astradur B, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sigurdsson, Gunnar, additional, Helgadottir, Anna, additional, Halldorsson, Bjarni V, additional, Masson, Gisli, additional, Holm, Hilma, additional, Onundarson, Pall T, additional, Indridason, Olafur S, additional, Benediktsson, Rafn, additional, Palsson, Runolfur, additional, Gudbjartsson, Daniel F, additional, Olafsson, Isleifur, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2018
Full Text
View/download PDF

38. Variants inNKX2-5andFLNCCause Dilated Cardiomyopathy and Sudden Cardiac Death

Author

Sveinbjornsson, Gardar, primary, Olafsdottir, Eva F., additional, Thorolfsdottir, Rosa B., additional, Davidsson, Olafur B., additional, Helgadottir, Anna, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Bjornsson, Eythor, additional, Jensson, Brynjar O., additional, Arnadottir, Gudny A., additional, Kristinsdottir, Hallfridur, additional, Stephensen, Sigurdur S., additional, Oskarsson, Gylfi, additional, Gudbjartsson, Tomas, additional, Sigurdsson, Emil L., additional, Andersen, Karl, additional, Danielsen, Ragnar, additional, Arnar, David O., additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, Thorgeirsson, Gudmundur, additional, Gudbjartsson, Daniel F., additional, Holm, Hilma, additional, and Stefansson, Kari, additional

Published
2018
Full Text
View/download PDF

39. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar O., primary, Hansdottir, Sif, additional, Arnadottir, Gudny A., additional, Sulem, Gerald, additional, Kristjansson, Ragnar P., additional, Oddsson, Asmundur, additional, Benonisdottir, Stefania, additional, Jonsson, Hakon, additional, Helgason, Agnar, additional, Saemundsdottir, Jona, additional, Magnusson, Olafur T., additional, Masson, Gisli, additional, Thorisson, Gudmundur A., additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Jonsdottir, Ingileif, additional, Petursdottir, Vigdis, additional, Kristinsson, Jon R., additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Arngrimsson, Reynir, additional, Sulem, Patrick, additional, Gudmundsson, Gunnar, additional, and Stefansson, Kari, additional

Published
2017
Full Text
View/download PDF

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

Author

Arnadottir, Gudny A., primary, Jensson, Brynjar O., additional, Marelsson, Sigurdur E., additional, Sulem, Gerald, additional, Oddsson, Asmundur, additional, Kristjansson, Ragnar P., additional, Benonisdottir, Stefania, additional, Gudjonsson, Sigurjon A., additional, Masson, Gisli, additional, Thorisson, Gudmundur A., additional, Saemundsdottir, Jona, additional, Magnusson, Olafur Th., additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Arngrimsson, Reynir, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2017
Full Text
View/download PDF

41. Sequence variant at 4q25 near PITX2 associates with appendicitis

Author

Kristjansson, Ragnar P., primary, Benonisdottir, Stefania, additional, Oddsson, Asmundur, additional, Galesloot, Tessel E., additional, Thorleifsson, Gudmar, additional, Aben, Katja K., additional, Davidsson, Olafur B., additional, Jonsson, Stefan, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Walters, G. Bragi, additional, Sigurdsson, Jon K., additional, Sigurdsson, Snaevar, additional, Holm, Hilma, additional, Arnar, David O., additional, Thorgeirsson, Gudmundur, additional, Alexiusdottir, Kristin, additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, Kiemeney, Lambertus A., additional, Jonsson, Thorvaldur, additional, Gudbjartsson, Daniel F., additional, Rafnar, Thorunn, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2017
Full Text
View/download PDF

42. Sequence variants associating with urinary biomarkers.

Author

Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, and Asselbergs, Folkert W

Published
2019
Full Text
View/download PDF

43. Epigenetic and genetic components of height regulation

Author

Benonisdottir, Stefania, primary, Oddsson, Asmundur, additional, Helgason, Agnar, additional, Kristjansson, Ragnar P., additional, Sveinbjornsson, Gardar, additional, Oskarsdottir, Arna, additional, Thorleifsson, Gudmar, additional, Davidsson, Olafur B., additional, Arnadottir, Gudny A., additional, Sulem, Gerald, additional, Jensson, Brynjar O., additional, Holm, Hilma, additional, Alexandersson, Kristjan F., additional, Tryggvadottir, Laufey, additional, Walters, G. Bragi, additional, Gudjonsson, Sigurjon A., additional, Ward, Lucas D., additional, Sigurdsson, Jon K., additional, Iordache, Paul D., additional, Frigge, Michael L., additional, Rafnar, Thorunn, additional, Kong, Augustine, additional, Masson, Gisli, additional, Helgason, Hannes, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2016
Full Text
View/download PDF

44. Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Author

Kristjansson, Ragnar P., primary, Oddsson, Asmundur, additional, Helgason, Hannes, additional, Sveinbjornsson, Gardar, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonasdottir, Adalbjorg, additional, Bragi Walters, G., additional, Sulem, Gerald, additional, Oskarsdottir, Arna, additional, Benonisdottir, Stefania, additional, Davidsson, Olafur B., additional, Masson, Gisli, additional, Th Magnusson, Olafur, additional, Holm, Hilma, additional, Sigurdardottir, Olof, additional, Jonsdottir, Ingileif, additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2016
Full Text
View/download PDF

45. A loss-of-function variant in ALOX15protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Abstract

Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P=8.0 × 10−27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P=1.1 × 10−8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.

Published
2019
Full Text
View/download PDF

46. Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.

Author

Sveinbjornsson, Gardar, Olafsdottir, Eva F., Thorolfsdottir, Rosa B., Davidsson, Olafur B., Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Eythor, Jensson, Brynjar O., Arnadottir, Gudny A., Kristinsdottir, Hallfridur, Stephensen, Sigurdur S., Oskarsson, Gylfi, Gudbjartsson, Tomas, Sigurdsson, Emil L., Andersen, Karl, Danielsen, Ragnar, Arnar, David O., Jonsdottir, Ingileif, and Thorsteinsdottir, Unnur

Abstract

Supplemental Digital Content is available in the text. Background: Dilated cardiomyopathy (DCM) is an important cause of heart failure. Variants in >50 genes have been reported to cause DCM, but causative variants have been found in less than half of familial cases. Variants causing DCM in Iceland have not been reported before. Methods: We performed a genome-wide association study on DCM based on whole genome sequencing. We tested the association of 32.5 million sequence variants in 424 cases and 337 689 population controls in Iceland. Results: We identified 2 DCM variants in established cardiomyopathy genes, a missense variant p.Phe145Leu in NKX2-5 carried by 1 in 7100 Icelanders (P =7.0×10−12) and a frameshift variant p.Phe1626Serfs*40 in FLNC carried by 1 in 3600 Icelanders (P =2.1×10−10). Both variants associate with heart failure and sudden cardiac death. Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect (P <1.4×10−4). The penetrance of serious heart disease among carriers of the NKX2-5 variant is high and higher than that of the FLNC variant. Conclusions: Two rare variants in NKX2-5 and FLNC , carried by 1 in 2400 Icelanders, cause familial DCM in Iceland. These genes have recently been associated with DCM. Given the serious consequences of these variants, we suggest screening for them in individuals with DCM and their family members, with subsequent monitoring of carriers, offering early intervention. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

47. Variants in NKX2-5and FLNCCause Dilated Cardiomyopathy and Sudden Cardiac Death

Author

Sveinbjornsson, Gardar, Olafsdottir, Eva F., Thorolfsdottir, Rosa B., Davidsson, Olafur B., Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Eythor, Jensson, Brynjar O., Arnadottir, Gudny A., Kristinsdottir, Hallfridur, Stephensen, Sigurdur S., Oskarsson, Gylfi, Gudbjartsson, Tomas, Sigurdsson, Emil L., Andersen, Karl, Danielsen, Ragnar, Arnar, David O., Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Sulem, Patrick, Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F., Holm, Hilma, and Stefansson, Kari

Abstract

Supplemental Digital Content is available in the text.

Published
2018
Full Text
View/download PDF

48. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Author

Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, and Hakonarson H

Subjects
Humans, Gene Regulatory Networks, Mutation, Missense, RNA Splicing, RNA Splicing Factors genetics, Nuclear Proteins genetics, DNA Repair Enzymes genetics, Spliceosomes genetics, Neurodevelopmental Disorders genetics
Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50-deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024
Full Text
View/download PDF

49. Actionable Genotypes and Their Association with Life Span in Iceland.

Author

Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, and Sulem P

Subjects
Humans, Alleles, Genetic Testing, Genetic Variation, Genotype, Iceland epidemiology, Cardiovascular Diseases genetics, Neoplasms genetics, Genomics, Longevity genetics, Disease genetics
Abstract

Background: In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations of the association of actionable genotypes in these genes with life span are currently lacking., Methods: We assessed the prevalence of coding and splice variants in genes on the ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list in the genomes of 57,933 Icelanders. We assigned pathogenicity to all reviewed variants using reported evidence in the ClinVar database, the frequency of variants, and their associations with disease to create a manually curated set of actionable genotypes (variants). We assessed the relationship between these genotypes and life span and further examined the specific causes of death among carriers., Results: Through manual curation of 4405 sequence variants in the ACMG SF v3.0 genes, we identified 235 actionable genotypes in 53 genes. Of the 57,933 participants, 2306 (4.0%) carried at least one actionable genotype. We found shorter median survival among persons carrying actionable genotypes than among noncarriers. Specifically, we found that carrying an actionable genotype in a cancer gene was associated with survival that was 3 years shorter than that among noncarriers, with causes of death among carriers attributed primarily to cancer-related conditions. Furthermore, we found evidence of association between carrying an actionable genotype in certain genes in the cardiovascular disease group and a reduced life span., Conclusions: On the basis of the ACMG SF v3.0 guidelines, we found that approximately 1 in 25 Icelanders carried an actionable genotype and that carrying such a genotype was associated with a reduced life span. (Funded by deCODE Genetics-Amgen.)., (Copyright © 2023 Massachusetts Medical Society.)

Published
2023
Full Text
View/download PDF

50. Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.

Author

Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, and Stefansson K

Subjects
Adult, Aged, Aged, 80 and over, Cardiomyopathy, Dilated epidemiology, Case-Control Studies, Death, Sudden, Cardiac epidemiology, Female, Frameshift Mutation, Genome-Wide Association Study, Humans, Iceland epidemiology, Male, Middle Aged, Mutation, Missense, Penetrance, Young Adult, Cardiomyopathy, Dilated complications, Cardiomyopathy, Dilated genetics, Death, Sudden, Cardiac etiology, Filamins genetics, Homeobox Protein Nkx-2.5 genetics
Abstract

Background: Dilated cardiomyopathy (DCM) is an important cause of heart failure. Variants in >50 genes have been reported to cause DCM, but causative variants have been found in less than half of familial cases. Variants causing DCM in Iceland have not been reported before., Methods: We performed a genome-wide association study on DCM based on whole genome sequencing. We tested the association of 32.5 million sequence variants in 424 cases and 337 689 population controls in Iceland., Results: We identified 2 DCM variants in established cardiomyopathy genes, a missense variant p.Phe145Leu in NKX2-5 carried by 1 in 7100 Icelanders ( P=7.0×10 -12 ) and a frameshift variant p.Phe1626Serfs*40 in FLNC carried by 1 in 3600 Icelanders ( P=2.1×10 -10 ). Both variants associate with heart failure and sudden cardiac death. Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10 -4 ). The penetrance of serious heart disease among carriers of the NKX2-5 variant is high and higher than that of the FLNC variant., Conclusions: Two rare variants in NKX2-5 and FLNC, carried by 1 in 2400 Icelanders, cause familial DCM in Iceland. These genes have recently been associated with DCM. Given the serious consequences of these variants, we suggest screening for them in individuals with DCM and their family members, with subsequent monitoring of carriers, offering early intervention.

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results