Genetic landscape of sporadic vestibular schwannoma von Håvik, Aril Løge, Bruland, Ove, Myrseth, Erling, Miletic, Hrvoje, Aarhus, Mads, Knappskog, Per-Morten, Lund-Johansen, Morten

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Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma von Håvik, Aril Løge, Bruland, Ove, Dhayalan, Dhanushan, Lund-Johansen, Morten, Knappskog, Per-Morten

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Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma von Håvik, Aril Løge, Bruland, Ove, Miletic, Hrvoje, Poulsgaard, Lars, Scheie, David, Fugleholm, Kåre, Lund-Johansen, Morten, Knappskog, Per-Morten

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Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation von Muñoz-Oreja, Mikel, Sandoval, Abigail, Bruland, Ove, Perez-Rodriguez, Diego, Fernandez-Pelayo, Uxoa, de Arbina, Amaia Lopez, Villar-Fernandez, Marina, Hernández-Eguiazu, Haizea, Hernández, Ixiar, Park, Yohan, Goicoechea, Leire, Pascual-Frías, Nerea, Garcia-Ruiz, Carmen, Fernandez-Checa, Jose, Martí-Carrera, Itxaso, Gil-Bea, Francisco Javier, Hasan, Mazahir T, Gegg, Matthew E, Bredrup, Cecilie, Knappskog, Per-Morten, Gereñu-Lopetegui, Gorka, Varhaug, Kristin N, Bindoff, Laurence A, Spinazzola, Antonella, Yoon, Wan Hee, Holt, Ian J

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The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients von Taule-Sivertsen, Peter, Bruland, Ove, Håvik, Aril Løge, Bratland, Eirik, Lund-Johansen, Morten, Knappskog, Per Morten

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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays von Bassi, Nicola, Hovland, Henrikke Nilsen, Rasheed, Kashif, Jarhelle, Elisabeth, Pedersen, Nikara, Mchaina, Eunice Kabanyana, Bakkan, Sara Marie Engelsvold, Iversen, Nina, Høberg-Vetti, Hildegunn, Haukanes, Bjørn Ivar, Knappskog, Per Morten, Aukrust, Ingvild, Ognedal, Elisabet, Van Ghelue, Marijke

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Screening for viral nucleic acids in vestibular schwannoma von Håvik, Aril Løge, Bruland, Ove, Aarhus, Mads, Kalland, Karl-Henning, Stokowy, Tomasz, Lund-Johansen, Morten, Knappskog, Per-Morten

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies von Haugarvoll, Kristoffer, Johansson, Stefan, Rodriguez, Carlos E, Boman, Helge, Haukanes, Bjørn Ivar, Bruland, Ove, Roque, Francisco, Jonassen, Inge, Blomqvist, Maria, Telstad, Wenche, Månsson, Jan-Eric, Knappskog, Per Morten, Bindoff, Laurence A

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Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature von Stige, Kjersti Eline, Gjerde, Ivar Otto, Houge, Gunnar, Knappskog, Per Morten, Tzoulis, Charalampos

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Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin von Mellgren, Anne Elisabeth Christensen, Bruland, Ove, Vedeler, Anni, Saraste, Jaakko, Schönheit, Jürgen, Bredrup, Cecilie, Knappskog, Per Morten, Rødahl, Eyvind

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HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia von Tzoulis, Charalampos, Zayats, Tetyana, Knappskog, Per Morten, Müller, Bernd, Larsen, Jan Petter, Tysnes, Ole-Bjørn, Bindoff, Laurence A., Johansson, Stefan, Haugarvoll, Kristoffer

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Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay von Tzoulis, Charalampos, Johansson, Stefan, Haukanes, Bjørn Ivar, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A

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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing von Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A

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Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype von Wibom, Carl, Mörén, Lina, Aarhus, Mads, Knappskog, Per Morten, Lund-Johansen, Morten, Antti, Henrik, Bergenheim, A Tommy

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GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility von Eriksson, Daniel, Røyrvik, Ellen Christine, Aranda-Guillén, Maribel, Berger, Amund Holte, Landegren, Nils, Artaza, Haydee, Hallgren, Åsa, Grytaas, Marianne Aardal, Ström, Sara, Bratland, Eirik, Botusan, Ileana Ruxandra, Oftedal, Bergithe Eikeland, Breivik, Lars, Vaudel, Marc, Helgeland, Øyvind, Falorni, Alberto, Jørgensen, Anders Palmstrøm, Hulting, Anna-Lena, Svartberg, Johan, Ekwall, Olov, Fougner, Kristian Johan, Wahlberg, Jeanette, Nedrebø, Bjørn Gunnar, Dahlqvist, Per, Knappskog, Per Morten, Wolff, Anette Susanne Bøe, Bensing, Sophie, Johansson, Stefan, Kämpe, Olle, Husebye, Eystein Sverre

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Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies von Aslaksen, Sigrid, Aukrust, Ingvild, Molday, Laurie, Holtan, Josephine Prener, Jansson, Ragnhild Wivestad, Berland, Siren, Rødahl, Eyvind, Bredrup, Cecilie, Bragadóttir, Ragnheiður, Bratland, Eirik, Molday, Robert S, Knappskog, Per Morten

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Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents von Smajlagic, Dinka, Lavrichenko, Ksenia, Berland, Siren, Helgeland, Oyvind, Knudsen, Gun Peggy, Vaudel, Marc, Haavik, Jan, Knappskog, Per Morten, Njolstad, Pal Rasmus, Houge, Gunnar, Johansson, Stefan

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Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder von Gudmundsson, Olafur O., Walters, G. Bragi, Ingason, Andres, Johansson, Stefan, Zayats, Tetyana, Athanasiu, Lavinia, Sonderby, Ida Elken, Gustafsson, Omar, Nawaz, Muhammad S., Jonsson, Gudbjorn F., Jonsson, Lina, Knappskog, Per-Morten, Ingvarsdottir, Ester, Davidsdottir, Katrin, Djurovic, Srdjan, Knudsen, Gun Peggy Strømstad, Askeland, Ragna Bugge, Haraldsdottir, Gyda S., Baldursson, Gisli, Magnusson, Pall, Sigurdsson, Engilbert, Gudbjartsson, Daniel F., Stefansson, Hreinn, Andreassen, Ole A., Haavik, Jan, Reichborn-Kjennerud, Ted, Stefansson, Kari

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One-tube restriction enzyme digest and fluorescent labeling for restriction endonuclease fingerprinting single-strand conformational polymorphism von Bruland, Ove, Knappskog, Per Morten

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Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies von Holtan, Josephine Prener, Aukrust, Ingvild, Jansson, Ragnhild Wivestad, Berland, Siren, Bruland, Ove, Gjerde, Birgitt Løkhaug, Stokowy, Tomasz, Bojovic, Ognjen, Forsaa, Vegard, Austeng, Dordi, Rødahl, Eyvind, Bredrup, Cecilie, Knappskog, Per Morten, Bragadóttir, Ragnheiður

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