Cristin-person-ID: 395802
Person

Aktiv cristin-person Laeya Abdoli Najmi

  • Stilling:
    Gjest
    ved Klinisk institutt 2 ved Universitetet i Bergen

Resultater Resultater

Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation.

Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J.; Aukrust, Ingvild; Rundle, Jana K.; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; Hassanali, Neelam mfl.. 2020, American Journal of Human Genetics. NIHR, SU, OUH, UoO, NHS, HAUKELAND, UoE, UIB, HVLVitenskapelig artikkel

Role of rare HNF1A variants function in monogenic and type 2 diabetes.

Najmi, Laeya Abdoli. 2018, UIBDoktorgradsavhandling

Developing high throughput assays for functional classification of novel missense variants in HNF1A.

Najmi, Laeya Abdoli; Althari, Sara; Bjørkhaug, Lise; Rice, Robert; McCarthy, Mark; Gloyn, Anna L; Njølstad, Pål Rasmus; Majithia, Amit. 2017, Diabetes kongress. UIB, HVLPoster

Analysis of protein-coding genetic variation in 60,706 humans.

Lek, M; Aggregation Consortium, Exome; Njølstad, Pål Rasmus; Najmi, Laeya Abdoli; Aukrust, Ingvild; Bjørkhaug, Lise. 2016, Nature. UIBVitenskapelig artikkel

Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population.

Najmi, Laeya Abdoli; Aukrust, Ingvild; Flannick, Jason; Molnes, Janne; Burtt, Noël; Molven, Anders; Groop, Leif; Altshuler, David; Johansson, Stefan; Bjørkhaug, Lise mfl.. 2017, Diabetes. HAUKELAND, Lu, BROAD, UIB, HVL, MGH, HMSVitenskapelig artikkel
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