Per M. Knappskog

Haukeland University Hospital — Norway

Biochemistry, Genetics and Molecular Biology · Life Sciences

46h-index6.3kcitations165works1.72yr avg
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Research Topics

Metabolism and Genetic Disorders(33), Adrenal Hormones and Disorders(20), Hormonal Regulation and Hypertension(15), Attention Deficit Hyperactivity Disorder(10), Diabetes and associated disorders(10)

Publications162 total

A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity
Molecular Psychiatry·2025Open Access
Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports
Case Reports in Ophthalmology·2025Open Access
High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys
Frontiers in Immunology·2025· 2 citedOpen Access
On subcellular distribution of the zinc finger 469 protein ( <scp>ZNF469</scp> ) and observed discrepancy in the localization of endogenous and overexpressed <scp>ZNF469</scp>
FEBS Open Bio·2025Open Access
Author response for "On subcellular distribution of the zinc finger 469 protein (&lt;scp&gt;ZNF469&lt;/scp&gt;) and observed discrepancy in the localization of endogenous and overexpressed &lt;scp&gt;ZNF469&lt;/scp&gt;"
2025
Author response for "On subcellular distribution of the zinc finger 469 protein (&lt;scp&gt;ZNF469&lt;/scp&gt;) and observed discrepancy in the localization of endogenous and overexpressed &lt;scp&gt;ZNF469&lt;/scp&gt;"
2025
High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys
2024Open Access
Functional Characterization of <i>ABCA4</i> Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies
Investigative Ophthalmology & Visual Science·2024· 1 citedOpen Access
Rare copy number variation in autoimmune Addison’s disease
Frontiers in Immunology·2024· 4 citedOpen Access
Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy
Cornea·2024· 3 cited
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1
Journal of Clinical Investigation·2023· 11 citedOpen Access
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
BMC Cancer·2023· 7 citedOpen Access
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
Genes·2023· 4 citedOpen Access
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies
Journal of Autoimmunity·2022· 23 cited
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis
Pediatric Nephrology·2022· 12 citedOpen Access
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
Familial Cancer·2022· 3 citedOpen Access
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish
Frontiers in Molecular Neuroscience·2021· 2 citedOpen Access
The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients
Journal of Neuro-Oncology·2021· 12 citedOpen Access
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
International Journal of Molecular Sciences·2021· 17 citedOpen Access
Gene Expression to Guide Glucocorticoid Replacement in Autoimmune Addison’s Disease
Journal of the Endocrine Society·2021Open Access
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Frequent Co-authors

Stefan Johansson(17), Jan Haavik(16), Helge Boman(12), Aurora Martı́nez(9), Torgeir Flatmark(7), Torunn Fiskerstrand(6), Cecilie Bredrup(6), Eyvind Rødahl(6), Anette S. B. Wolff(5), Eystein S. Husebye(5), Bjørn Ivar Haukanes(5), Bergithe E Oftedal(4), Kari Lima(4), Christian Jacob(4), Klaus‐Peter Lesch(4), Miguel Casas(4), Marta Ribasès(4), Rosa Bosch(4), Bru Cormand(4), Josep Antoni Ramos‐Quiroga(4)