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1.
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Hum Mol Genet
; 33(10): 894-904, 2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38433330
2.
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Diabetologia
; 66(1): 116-126, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36216889
3.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Diabetologia
; 66(12): 2226-2237, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37798422
4.
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants.
J Biol Chem
; 298(4): 101803, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35257744
5.
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Am J Hum Genet
; 107(4): 670-682, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32910913
6.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
BMC Cancer
; 23(1): 368, 2023 Apr 21.
Article
in English
| MEDLINE | ID: mdl-37085799
7.
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
J Inherit Metab Dis
; 44(1): 240-252, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32876354
8.
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
J Med Genet
; 57(7): 461-465, 2020 07.
Article
in English
| MEDLINE | ID: mdl-31924697
9.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Int J Mol Sci
; 22(11)2021 May 30.
Article
in English
| MEDLINE | ID: mdl-34070858
10.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32376980
11.
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
BMC Med Genet
; 19(1): 47, 2018 03 20.
Article
in English
| MEDLINE | ID: mdl-29558889
12.
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
Diabetologia
; 60(4): 625-635, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27913849
13.
SUMOylation of pancreatic glucokinase regulates its cellular stability and activity.
J Biol Chem
; 288(8): 5951-62, 2013 Feb 22.
Article
in English
| MEDLINE | ID: mdl-23297408
14.
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
JAMA
; 311(22): 2305-14, 2014 Jun 11.
Article
in English
| MEDLINE | ID: mdl-24915262
15.
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Biochim Biophys Acta
; 1822(11): 1705-15, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22820548
16.
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Genes (Basel)
; 14(2)2023 01 19.
Article
in English
| MEDLINE | ID: mdl-36833189
17.
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Cells
; 12(20)2023 10 17.
Article
in English
| MEDLINE | ID: mdl-37887313
18.
A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
medRxiv
; 2023 Apr 19.
Article
in English
| MEDLINE | ID: mdl-37131594
19.
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Commun Med (Lond)
; 3(1): 136, 2023 Oct 05.
Article
in English
| MEDLINE | ID: mdl-37794142
20.
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Lancet Reg Health Eur
; 24: 100529, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36649380