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Journal of Inherited Metabolic Disease|September 3, 2020
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitroKelly Velasco, Johanna L St-Louis, Henrikke N Hovland, et al.
Human Molecular Genetics|March 4, 2024
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effectsAlba Kaci, Marie Holm Solheim, Trine Silgjerd, et al.
Familial Cancer|January 4, 2022
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratoriesHenrikke N Hovland, Rafal Al-Adhami, Sarah Louise Ariansen, et al.
The Journal of Clinical Endocrinology and Metabolism|October 3, 2015
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital HyperinsulinismKlara Rozenkova, Jana Malikova, Azizun Nessa, 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.
Molecular and Cellular Endocrinology|June 27, 2017
Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylationBente Berg Johansson, Karianne Fjeld, Marie Holm Solheim, et al.
Diabetologia|October 5, 2023
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetesPernille Svalastoga, Alba Kaci, Janne Molnes, et al.
International Journal of Molecular Sciences|June 2, 2021
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16Yasaman Pakdaman, Siren Berland, Helene J Bustad, et al.
Medrxiv : the Preprint Server for Health Sciences|May 3, 2023
A Systematic Review of the use of Precision Diagnostics in Monogenic DiabetesRinki Murphy, Kevin Colclough, Toni I Pollin, et al.
European Journal of Human Genetics : EJHG|November 30, 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesKohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, et al.
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