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  1. Epting, Daniel [Author]; Senaratne, Lokuliyange D. S. [Author]; Ott, Elisabeth [Author]; Holmgren, Asbjørn [Author]; Bergmann, Carsten [Author]; Misceo, Doriana [Author]

    Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

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    2020

  2. Hughes, Timothy [Author]; Sønderby, Ida E. [Author]; Bergen, Sarah E. [Author]; Karlsson, Robert [Author]; Song, Jie [Author]; Rietschel, Marcella [Author]; Nöthen, Markus M. [Author]; Forstner, Andreas J. [Author]; Hoffmann, Per [Author]; Hultman, Christina M. [Author]; Landén, Mikael [Author]; Cichon, Sven [Author]; Polushina, Tatiana [Author]; Werge, Thomas [Author]; Andreassen, Ole A. [Author]; Le Hellard, Stephanie [Author]; Djurovic, Srdjan [Author]; Hansson, Lars [Author]; Holmgren, Asbjørn [Author]; Athanasiu, Lavinia [Author]; Melbø-Jørgensen, Christian [Author]; Hassani, Sahar [Author]; Hoeffding, Louise K. [Author]; Herms, Stefan [Author]

    Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder

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    Nature Publishing Group, 2018

    Published in: Translational Psychiatry 8(1), 210 (2018). doi:10.1038/s41398-018-0175-x

  5. Akkouh, Ibrahim A.; Skrede, Silje; Holmgren, Asbjørn; Ersland, Kari M.; Hansson, Lars; Bahrami, Shahram; Andreassen, Ole A.; Steen, Vidar M.; Djurovic, Srdjan; Hughes, Timothy

    Exploring lithium’s transcriptional mechanisms of action in bipolar disorder: a multi-step study

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    Springer Science and Business Media LLC, 2020

    Published in: Neuropsychopharmacology

  9. Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Blomhoff, Anne; Helle, Johan Robert; Stormyr, Alice; Tvedt, Bjørn; Fannemel, Madeleine; Frengen, Eirik

    Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

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    Springer Science and Business Media LLC, 2013

    Published in: Orphanet Journal of Rare Diseases

  10. Stenvik, Grethe-Elisabeth; Tandstad, Nora M.; Guo, Yongfeng; Shi, Chun-Lin; Kristiansen, Wenche; Holmgren, Asbjørn; Clark, Steven E.; Aalen, Reidunn B.; Butenko, Melinka A.

    The EPIP Peptide of INFLORESCENCE DEFICIENT IN ABSCISSION Is Sufficient to Induce Abscission in Arabidopsis through the Receptor-Like Kinases HAESA and HAESA-LIKE2

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    American Society of Plant Biologists, 2008

    Published in: The Plant Cell

  11. Stenvik, Grethe-Elisabeth; Tandstad, Nora M.; Guo, Yongfeng; Shi, Chun-Lin; Kristiansen, Wenche; Holmgren, Asbjørn; Clark, Steven E.; Aalen, Reidunn B.; Butenko, Melinka A.

    The EPIP Peptide of INFLORESCENCE DEFICIENT IN ABSCISSION Is Sufficient to Induce Abscission inArabidopsisthrough the Receptor-Like Kinases HAESA and HAESA-LIKE2

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    Oxford University Press (OUP), 2008

    Published in: The Plant Cell

  12. Schønberg, Svanhild A.; Lundemo, Anne G.; Fladvad, Torill; Holmgren, Kristin; Bremseth, Hilde; Nilsen, Asbjørn; Gederaas, Odrun; Tvedt, Kåre E.; Egeberg, Kjartan W.; Krokan, Hans E.

    Closely related colon cancer cell lines display different sensitivity to polyunsaturated fatty acids, accumulate different lipid classes and downregulate sterol regulatory element‐binding protein 1

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    Wiley, 2006

    Published in: The FEBS Journal

  13. Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind Y. M.; Bjørnstad, Pål Marius; Szczałuba, Krzysztof; Gasperowicz, Piotr; Kamien, Benjamin; Nedregaard, Bård; Holmgren, Asbjørn; Strømme, Petter; Frengen, Eirik

    Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome

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    MDPI AG, 2023

    Published in: Genes

  14. Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana; Ferdinandusse, Sacha; Holmgren, Asbjørn; Hughes, Timothy; Merckoll, Else; Westvik, Jostein; Woldseth, Berit; Walter, John; Wood, Nick; Tvedt, Bjørn; Stadskleiv, Kristine; Wanders, Ronald J.A.; Waterham, Hans R.; Frengen, Eirik

    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

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    Oxford University Press (OUP), 2015

    Published in: Human Molecular Genetics

  15. 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

    A Dominant STIM1 Mutation Causes Stormorken Syndrome

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    Hindawi Limited, 2014

    Published in: Human Mutation

  16. Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz; Iqbal, Zafar; Khan, Jamshed; Assir, Muhammad Zaman; Hussain, Mureed; Razzaq, Attia; Polla, Daniel Lôpo; Taj, Abid Sohail; Holmgren, Asbjørn; Batool, Naila; Misceo, Doriana; Iwaszkiewicz, Justyna; de Brouwer, Arjan P.M.; Guipponi, Michel; Hanquinet, Sylviane; Zoete, Vincent; Santoni, Federico A.; Frengen, Eirik; Ahmed, Jawad; Riazuddin, Sheikh; [...]

    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

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    Elsevier BV, 2018

    Published in: Genetics in Medicine

  17. Hughes, Timothy; Sønderby, Ida E.; Polushina, Tatiana; Hansson, Lars; Holmgren, Asbjørn; Athanasiu, Lavinia; Melbø-Jørgensen, Christian; Hassani, Sahar; Hoeffding, Louise K.; Herms, Stefan; Bergen, Sarah E.; Karlsson, Robert; Song, Jie; Rietschel, Marcella; Nöthen, Markus M.; Forstner, Andreas J.; Hoffmann, Per; Hultman, Christina M.; Landén, Mikael; Cichon, Sven; Werge, Thomas; Andreassen, Ole A.; Le Hellard, Stephanie; Djurovic, Srdjan

    Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder

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    Springer Science and Business Media LLC, 2018

    Published in: Translational Psychiatry

  18. Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette; Holmgren, Asbjørn; Gurcan, Ebrar; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward; Høneren Johansson, Linda; Babovic, Almira; Zetterberg, Henrik; Heuer, Heike; Frengen, Eirik; Misceo, Doriana; Visser, Theo J.

    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration

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    Mary Ann Liebert Inc, 2018

    Published in: Thyroid

  19. Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari‐Anne M.; Crowley, Suzanne; Sikiric, Alma; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine; Patzke, Sebastian; Phelps, Ian G.; Katsanis, Nicholas; Giles, Rachel; Schmidts, Miriam; Zucknick, Manuela; Lienkamp, Soeren S.; Omran, Heymut; [...]

    Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

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    Hindawi Limited, 2020

    Published in: Human Mutation