Long‐Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia
Presterud, Rebecca, Deng, Wei Hai, Wennerström, Anna Berit, Burgers, Trudy, Gajera, Bharat, Mattsson, Kirsten, Solberg, Agnes, Fang, Evandro F., Nieminen, Anni I., Stray‐Pedersen, Asbjørg, Nilsen, Hilde
Published in Movement disorders (01.02.2024)
Published in Movement disorders (01.02.2024)
Get full text
Journal Article
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
Get full text
Journal Article
A Dominant STIM1 Mutation Causes Stormorken Syndrome
Misceo, Doriana, Holmgren, Asbjørn, Louch, William E., Holme, Pål A., Mizobuchi, Masahiro, Morales, Raul J., De Paula, André Maues, Stray-Pedersen, Asbjørg, Lyle, Robert, Dalhus, Bjørn, Christensen, Geir, Stormorken, Helge, Tjønnfjord, Geir E., Frengen, Eirik
Published in Human mutation (01.05.2014)
Published in Human mutation (01.05.2014)
Get full text
Journal Article
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
Witzel, Maximilian, Petersheim, Daniel, Fan, Yanxin, Bahrami, Ehsan, Racek, Tomas, Rohlfs, Meino, Puchałka, Jacek, Mertes, Christian, Gagneur, Julien, Ziegenhain, Christoph, Enard, Wolfgang, Stray-Pedersen, Asbjørg, Arkwright, Peter D, Abboud, Miguel R, Pazhakh, Vahid, Lieschke, Graham J, Krawitz, Peter M, Dahlhoff, Maik, Schneider, Marlon R, Wolf, Eckhard, Horny, Hans-Peter, Schmidt, Heinrich, Schäffer, Alejandro A, Klein, Christoph
Published in Nature genetics (01.05.2017)
Published in Nature genetics (01.05.2017)
Get full text
Journal Article
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow‐up
Baliakas, Panagiotis, Tesi, Bianca, Wartiovaara‐Kautto, Ulla, Stray‐Pedersen, Asbjørg, Friis, Lone Smidstrup, Dybedal, Ingunn, Hovland, Randi, Jahnukainen, Kirsi, Raaschou‐Jensen, Klas, Ljungman, Per, Rustad, Cecilie F., Lautrup, Charlotte K., Kilpivaara, Outi, Kittang, Astrid Olsnes, Grønbæk, Kirsten, Cammenga, Jörg, Hellström‐Lindberg, Eva, Andersen, Mette K.
Published in HemaSphere (01.12.2019)
Published in HemaSphere (01.12.2019)
Get full text
Journal Article
A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT
Jørgensen, Silje F., Buechner, Jochen, Myhre, Anders E., Galteland, Eivind, Spetalen, Signe, Kulseth, Mari Ann, Sorte, Hanne S., Holla, Øystein L., Lundman, Emma, Alme, Charlotte, Heier, Ingvild, Flægstad, Trond, Fløisand, Yngvar, Benneche, Andreas, Fevang, Børre, Aukrust, Pål, Stray-Pedersen, Asbjørg, Gedde-Dahl, Tobias, Nordøy, Ingvild
Published in Journal of clinical immunology (01.02.2022)
Published in Journal of clinical immunology (01.02.2022)
Get full text
Journal Article
Biallelic mutations in IRF8 impair human NK cell maturation and function
Mace, Emily M, Bigley, Venetia, Gunesch, Justin T, Chinn, Ivan K, Angelo, Laura S, Care, Matthew A, Maisuria, Sheetal, Keller, Michael D, Togi, Sumihito, Watkin, Levi B, LaRosa, David F, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjørg, Coban Akdemir, Zeynep, Smith, Jansen B, Hernández-Sanabria, Mayra, Le, Duy T, Hogg, Graham D, Cao, Tram N, Freud, Aharon G, Szymanski, Eva P, Savic, Sinisa, Collin, Matthew, Cant, Andrew J, Gibbs, Richard A, Holland, Steven M, Caligiuri, Michael A, Ozato, Keiko, Paust, Silke, Doody, Gina M, Lupski, James R, Orange, Jordan S
Published in The Journal of clinical investigation (01.01.2017)
Published in The Journal of clinical investigation (01.01.2017)
Get full text
Journal Article
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
Yu, Hui, PhD, Zhang, Victor Wei, MD, PhD, Stray-Pedersen, Asbjørg, MD, PhD, Hanson, Imelda Celine, MD, Forbes, Lisa R., MD, de la Morena, M. Teresa, MD, Chinn, Ivan K., MD, Gorman, Elizabeth, PhD, Mendelsohn, Nancy J., MD, Pozos, Tamara, MD, PhD, Wiszniewski, Wojciech, MD, PhD, Nicholas, Sarah K., MD, Yates, Anne B., MD, Moore, Lindsey E., DO, Berge, Knut Erik, MD, PhD, Sorte, Hanne, MS, Bayer, Diana K., DO, ALZahrani, Daifulah, MD, Geha, Raif S., MD, Feng, Yanming, PhD, Wang, Guoli, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (hon), Wang, Jing, MD, Wong, Lee-Jun, PhD
Published in Journal of allergy and clinical immunology (01.10.2016)
Published in Journal of allergy and clinical immunology (01.10.2016)
Get full text
Journal Article
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation
Tsykunova, Galina, Kristensen, Erle, Stray-Pedersen, Asbjørg, Bruserud, Øyvind, Sørensen, Ida Wiig, Bruserud, Øystein, Tvedt, Tor Henrik Anderson
Published in Hematology (Luxembourg) (01.12.2023)
Published in Hematology (Luxembourg) (01.12.2023)
Get full text
Journal Article
Identification of copy number variants from exome sequence data
Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Kristiansen, Bjørn Evert, Skodje, Tove, Sheng, Ying, Tjønnfjord, Geir E, Stadheim, Barbro, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Lyle, Robert
Published in BMC genomics (07.08.2014)
Published in BMC genomics (07.08.2014)
Get full text
Journal Article
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
Baliakas, Panagiotis, Tesi, Bianca, Cammenga, Jörg, Stray‐Pedersen, Asbjørg, Jahnukainen, Kirsi, Andersen, Mette Klarskov, Ågerstam, Helena, Creignou, Maria, Dybedal, Ingunn, Raaschou‐Jensen, Klas, Grønbæk, Kirsten, Kilpivaara, Outi, Lindberg, Eva Hellström, Wartiovaara‐Kautto, Ulla
Published in HemaSphere (2024)
Published in HemaSphere (2024)
Get full text
Journal Article
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
Sorte, Hanne S., Osnes, Liv T., Fevang, Børre, Aukrust, Pål, Erichsen, Hans C., Backe, Paul H., Abrahamsen, Tore G., Kittang, Ole B., Øverland, Torstein, Jhangiani, Shalini N., Muzny, Donna M., Vigeland, Magnus D., Samarakoon, Pubudu, Gambin, Tomasz, Akdemir, Zeynep H. C., Gibbs, Richard A., Rødningen, Olaug K., Lyle, Robert, Lupski, James R., Stray‐Pedersen, Asbjørg
Published in Molecular genetics & genomic medicine (01.11.2016)
Published in Molecular genetics & genomic medicine (01.11.2016)
Get full text
Journal Article
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
Skogseid, Inger Marie, Røsby, Oddveig, Konglund, Ane, Connelly, James P, Nedregaard, Bård, Jablonski, Greg Eigner, Kvernmo, Nadja, Stray-Pedersen, Asbjørg, Glover, Joel C
Published in Journal of neurodevelopmental disorders (22.05.2018)
Published in Journal of neurodevelopmental disorders (22.05.2018)
Get full text
Journal Article
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, Kibaek, Maria, Kirchhoff, Maria, Oneda, Beatrice, Rødningen, Olaug, Schmitt-Mechelke, Thomas, Rauch, Anita, Kjaergaard, Susanne
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
Get full text
Journal Article
Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168
Chinn, Ivan K, Sanders, Robert P, Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H, Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M, Quigg, Troy, Lupski, James R, Orange, Jordan S, Hanson, I Celine
Published in Frontiers in immunology (26.05.2017)
Published in Frontiers in immunology (26.05.2017)
Get full text
Journal Article
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Skauli, Nadia, Wallace, Sean, Chiang, Samuel C C, Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T, Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Published in Genes (29.11.2016)
Published in Genes (29.11.2016)
Get full text
Journal Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Get full text
Journal Article
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
Stray-Pedersen, Asbjørg, Gedde-Dahl, Tobias, Aukrust, Pål, Keil, Thomas Morten, Langmyr, Marit, Hov, Håkon, Aarset, Harald, Sorte, Hanne, Fagerli, Unn Merete, Fevang, Børre, Bjørge, Ellen
Published in Case Reports in Immunology (01.01.2018)
Published in Case Reports in Immunology (01.01.2018)
Get full text
Journal Article
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., Allen, Carl E.
Published in Blood (05.07.2018)
Published in Blood (05.07.2018)
Get full text
Journal Article