A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation von Gamage, Thilini H, Grabmayr, Herwig, Horvath, Ferdinand, Fahrner, Marc, Misceo, Doriana, Louch, William Edward, Gunnes, Gjermund, Pullisaar, Helen, Reseland, Janne Elin, Lyngstadaas, Staale Petter, Holmgren, Asbjørn, Amundsen, Silja S, Rathner, Petr, Cerofolini, Linda, Ravera, Enrico, Krobath, Heinrich, Luchinat, Claudio, Renger, Thomas, Müller, Norbert, Romanin, Christoph, Frengen, Eirik

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A single amino acid deletion in the ER Ca 2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation von Gamage, Thilini H, Grabmayr, Herwig, Horvath, Ferdinand, Fahrner, Marc, Misceo, Doriana, Louch, William Edward, Gunnes, Gjermund, Pullisaar, Helen, Reseland, Janne Elin, Lyngstadaas, Staale Petter, Holmgren, Asbjørn, Amundsen, Silja S, Rathner, Petr, Cerofolini, Linda, Ravera, Enrico, Krobath, Heinrich, Luchinat, Claudio, Renger, Thomas, Müller, Norbert, Romanin, Christoph, Frengen, Eirik

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AtMBD8 is involved in control of flowering time in the C24 ecotype of Arabidopsis thaliana von Stangeland, Biljana, Maryann Rosenhave, E, Winge, Per, Berg, Anita, Amundsen, Silja S, Karabeg, Mirela, Mandal, Abul, Bones, Atle M, Grini, Paul E, Aalen, Reidunn B

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A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction von Wintjes, Liesbeth T. M., Kava, Maina, Brandt, Frans A., Brand, Mariël A. M., Lapina, Oksana, Bliksrud, Yngve T., Kulseth, Mari A., Amundsen, Silja S., Selberg, Terje R., Ybema‐Antoine, Marion, Tutakhel, Omar A. Z., Greed, Lawrence, Thorburn, David R., Tangeraas, Trine, Balasubramaniam, Shanti, Rodenburg, Richard J. T.

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INFLORESCENCE DEFICIENT IN ABSCISSION Controls Floral Organ Abscission in Arabidopsis and Identifies a Novel Family of Putative Ligands in Plants von Butenko, Melinka A., Patterson, Sara E., Grini, Paul E., Stenvik, Grethe-Elisabeth, Amundsen, Silja S., Mandal, Abul, Aalen, Reidunn B.

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Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2 von Pedurupillay, Christeen Ramane J, Amundsen, Silja S, Barøy, Tuva, Rasmussen, Magnhild, Blomhoff, Anne, Stadheim, Barbro Fossøy, Ørstavik, Kristin, Holmgren, Asbjørn, Iqbal, Tahir, Frengen, Eirik, Misceo, Doriana, Strømme, Petter

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Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts von NORDANG, Gry B. N, VIKEN, Marte K, AMUNDSEN, Silja S, SANCHEZ, Elena S, FLATØ, Berit, FØRRE, Øystein T, MARTIN, Javier, KVIEN, Tore K, LIE, Benedicte A

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Association Between Genotypes and Phenotypes in Coeliac Disease von Gudjónsdóttir, Audur H, Nilsson, Staffan, Naluai, Åsa Torinsson, Ek, Johan, Amundsen, Silja S, Wahlström, Jan, Ascher, Henry

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Association Analysis of MYO9B Gene Polymorphisms with Celiac Disease in a Swedish/Norwegian Cohort von Amundsen, Silja S., Monsuur, Alienke J., Wapenaar, Martin C., Lie, Benedicte A., Ek, Johan, Gudjónsdóttir, Audur H., Ascher, Henry, Wijmenga, Cisca, Sollid, Ludvig M.

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FOXP3 polymorphisms in type 1 diabetes and coeliac disease von Bjørnvold, Marit, Amundsen, Silja S., Stene, Lars C., Joner, Geir, Dahl-Jørgensen, Knut, Njølstad, Pål R., Ek, Johan, Ascher, Henry, Gudjònsdòttir, Audur H., Lie, Benedicte A., Skinningsrud, Beate, Akselsen, Hanne E., Rønningen, Kjersti S., Sollid, Ludvig M., Undlien, Dag E.

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COX16 deficiency causes a novel mitochondrial disorder with lethal infantile presentation and complex IV deficiency von Balasubramaniam, Shanti, Wintjes, Liesbeth T.M., Kava, Maina, van den Brandt, Frans A., Bliksrud, Yngve T., Kulseth, Mari A., Amundsen, Silja S., Selberg, Terje R., Rodenburg, Richard J.T.

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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome von Tjeldhorn, Lena, Amundsen, Silja Svanstrøm, Barøy, Tuva, Rand-Hendriksen, Svend, Geiran, Odd, Frengen, Eirik, Paus, Benedicte

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Genetic analysis of the CD28/CTLA4/ICOS (CELIAC3) region in coeliac disease von Amundsen, S.S., Naluai, Å.T., Ascher, H., Ek, J., Gudjónsdóttir, A.H., Wahlström, J., Lie, B.A., Sollid, L.M.

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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder von Bjørgo, Kathrine, Fjær, Roar, Mørk, Hanne Håberg, Ferdinandusse, Sacha, Falkenberg, Kim D., Waterham, Hans R., Øye, Ane-Marte, Sikiric, Alma, Amundsen, Silja Svanstrøm, Kulseth, Mari Ann, Selmer, Kaja

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STIM1 R304W causes muscle degeneration and impaired platelet activation in mice von Gamage, Thilini H., Gunnes, Gjermund, Lee, Robert Hugh, Louch, William Edward, Holmgren, Asbjørn, Bruton, Joseph D., Lengle, Emma, Kolstad, Terje R. Selnes, Revold, Tobias, Amundsen, Silja Svanstrøm, Dalen, Knut Tomas, Holme, Pål Andre, Tjønnfjord, Geir Erland, Christensen, Geir, Westerblad, Håkan, Klungland, Arne, Bergmeier, Wolfgang, Misceo, Doriana, Frengen, Eirik

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Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways von Tønne, Elin, Due‐Tønnessen, Bernt Johan, Vigeland, Magnus Dehli, Amundsen, Silja Svanstrøm, Ribarska, Teodora, Åsten, Pamela Marika, Sheng, Ying, Helseth, Eirik, Gilfillan, Gregor Duncan, Mero, Inger‐Lise, Heimdal, Ketil Riddervold

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Genetic risk variants for autoimmune diseases that influence gene expression in thymus von Gabrielsen, Ingvild S M, Amundsen, Silja Svanstrøm, Helgeland, Hanna, Flåm, Siri Tennebø, Hatinoor, Nimo, Holm, Kristian, Viken, Marte K, Lie, Benedicte A

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A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation von Yaddehi Gamage, Thilini Hansamali Gamage, Grabmayr, Herwig, Horvath, Ferdinand, Fahrner, Marc, Misceo, Doriana, Louch, William Edward, Gunnes, Gjermund, Pullisaar, Helen, Reseland, Janne Elin, Lyngstadaas, Ståle Petter, Holmgren, Asbjørn, Amundsen, Silja Svanstrøm, Rathner, Petr, Cerofolini, Linda, Ravera, Enrico, Krobath, Heinrich, Luchinat, Claudio, Renger, Thomas, Müller, Norbert, Romanin, Christoph, Frengen, Eirik

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A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish Norwegian celiac disease families von AMUNDSEN, Silja Svanstrøm, ADAMOVIC, Svetlana, SOLLID, Ludvig M, NALUAI, Asa Torinsson, HELLQVIST, Asa, NILSSON, Staffan, GUDJONSDOTTIR, Audur H, ASCHER, Henry, EK, Johan, LARSSON, Kristina, WAHLSTRÖM, Jan, LIE, Benedicte A

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Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families von Adamovic, S, Amundsen, S S, Lie, B A, Gudjónsdóttir, A H, Ascher, H, Ek, J, van Heel, D A, Nilsson, S, Sollid, L M, Torinsson Naluai, Å

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