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Communications Medicine|October 4, 2023
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinionRinki Murphy, Kevin Colclough, Toni I Pollin, et al.
Orphanet Journal of Rare Diseases|September 27, 2014
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneityKetil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, et al.
American Journal of Human Genetics|September 10, 2020
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical InterpretationSara Althari, Laeya A Najmi, Amanda J Bennett, et al.
The Lancet Regional Health. Europe|January 17, 2023
A novel splice-affecting HNF1A variant with large population impact on diabetes in GreenlandAnne Cathrine Baun Thuesen, Frederik Filip Stæger, Alba Kaci, et al.
European Journal of Human Genetics : EJHG|November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsStéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Comparison of the ABC and ACMG systems for variant classificationGunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.
JAMA|June 11, 2014
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population, Karol Estrada, Ingvild Aukrust, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Nature Medicine|October 4, 2023
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicineDeirdre K Tobias, Jordi Merino, Abrar Ahmad, et al.
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