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European Journal of Human Genetics : EJHG|August 12, 2020
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parentsDinka Smajlagić, Ksenia Lavrichenko, Siren Berland, et al.
Case Reports in Ophthalmology|October 9, 2025
Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case ReportsSigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, et al.
Genes|February 25, 2023
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known FunctionsHenrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, et al.
Investigative Ophthalmology & Visual Science|August 1, 2024
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal DystrophiesSigrid Aslaksen, Ingvild Aukrust, Laurie Molday, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?Hildegunn Høberg-Vetti, Elisabet Ognedal, Adrien Buisson, et al.
Plos One|January 5, 2017
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical StudiesKristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, et al.
Acta Ophthalmologica|December 1, 2020
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophiesJosephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, et al.
BMC Cancer|April 21, 2023
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assaysNicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, et al.
The Journal of Clinical Endocrinology and Metabolism|October 26, 2017
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1Daniel Eriksson, Frida Dalin, Gabriel Nordling Eriksson, et al.
Scandinavian Journal of Gastroenterology|October 25, 2018
Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrheaRune R Tronstad, Tatiana Polushina, Hans-Richard Brattbakk, et al.
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