Publications by authors named "Per Knappskog"

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Early-Onset Stargardt Disease Caused by Homozygosity of a Complex Allele from Eastern Africa: Two Case Reports.
Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, Ingvild Aukrust, Cecilie Bredrup, Per Morten Knappskog

Case Rep Ophthalmol· October 2025

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A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.
Mathias Kaas, Sarah Broholt Dinesen, Ole Ahlgreen, Peder Madsen, Simon Mølgaard, Per Morten Knappskog

Mol Psychiatry· September 2025

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On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469.
Anne Elisabeth Christensen Mellgren, Ileana Cristea, Thomas Stevenson, Endy Spriet, Per Morten Knappskog

FEBS Open Bio· July 2025

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Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.
Worrawat Engchuan, Omar Shanta, Kuldeep Kumar, Jeffrey R MacDonald, Bhooma Thiruvahindrapuram, Per Knappskog

medRxiv· July 2025

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A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.
Omar Shanta, Marieke Klein, Molly Sacks, Jeffrey R MacDonald, Adam Maihofer, Per Knappskog

medRxiv· July 2025

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High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.
Amund Holte Berger, Bergithe Eikeland Oftedal, Anette Susanne Bøe Wolff, Eystein Sverre Husebye, Per Morten Knappskog

Front Immunol· May 2025

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Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.
Sigrid Aslaksen, Ingvild Aukrust, Laurie Molday, Josephine Prener Holtan, Ragnhild Wivestad Jansson, Per Morten Knappskog

Invest Ophthalmol Vis Sci· August 2024

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Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy.
Tim Berger, Andrea Hasenfus, Cecilie Bredrup, Zisis Gatzioufas, Fidelis Flockerzi, Per M Knappskog

Cornea· June 2024

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Rare copy number variation in autoimmune Addison's disease.
Haydee Artaza, Daniel Eriksson, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Per Knappskog

Front Immunol· April 2024

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A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Per M Knappskog

J Clin Invest· November 2023

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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Per Morten Knappskog

BMC Cancer· April 2023

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Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Mira Krendel, Sabine Leh, Michael E Garone, Alcia Edwards-Richards, Jen-Jar Lin, Per Knappskog

Pediatr Nephrol· February 2023

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Functional Analyses of Rare Germline Missense Variants Located within and outside Protein Domains with Known Functions.
Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Per Morten Knappskog

Genes (Basel)· January 2023

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Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.
Thea Sjøgren, Eirik Bratland, Ellen C Røyrvik, Marianne Aa Grytaas, Andreas Benneche, Per M Knappskog

J Autoimmun· December 2022

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BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Henrikke N Hovland, Rafal Al-Adhami, Sarah Louise Ariansen, Marijke Van Ghelue, Wenche Sjursen, Per Knappskog

Fam Cancer· October 2022

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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H J Norton, Hans O Rolfsnes, Per M Knappskog

Front Mol Neurosci· September 2021

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Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Josephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, Siren Berland, Ove Bruland, Per Morten Knappskog

Acta Ophthalmol· August 2021

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

J Neurooncol· August 2021

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Genetic Dominant Variants in Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Yasaman Pakdaman, Siren Berland, Helene J Bustad, Sigrid Erdal, Bryony A Thompson, Per M Knappskog

Int J Mol Sci· May 2021

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Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease.
Åse Bjorvatn Sævik, Anette B Wolff, Sigridur Björnsdottir, Katerina Simunkova, Martha Schei Hynne, Per M Knappskog

J Endocr Soc· March 2021

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GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.
Daniel Eriksson, Ellen Christine Røyrvik, Maribel Aranda-Guillén, Amund Holte Berger, Nils Landegren, Per Morten Knappskog

Nat Commun· February 2021

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Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.
Dinka Smajlagić, Ksenia Lavrichenko, Siren Berland, Øyvind Helgeland, Gun Peggy Knudsen, Per Morten Knappskog

Eur J Hum Genet· January 2021

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Using urine to diagnose large-scale mtDNA deletions in adult patients.
Kristin N Varhaug, Gonzalo S Nido, Irenaeus de Coo, Pirjo Isohanni, Anu Suomalainen, Per Knappskog

Ann Clin Transl Neurol· August 2020

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