• Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population 

      Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise; Najmi, Laeya Abdoli; Njølstad, Pål Rasmus; MacArthur, Daniel G.; The SIGMA Type 2 Diabetes Consortium (Peer reviewed; Journal article, 2014-06)
      Importance: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. Objectives: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in ...
    • Role of rare HNF1A variants function in monogenic and type 2 diabetes 

      Najmi, Laeya Abdoli (Doctoral thesis, 2018-10-26)
      Variants in the transcription factor gene HNF1A have been identified in subjects with maturity-onset diabetes of the young (MODY) type 3, type 2 diabetes, as well as in children with apparent type 1 diabetes. One of the ...
    • 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; van der Lugt, Timme; Hassanali, Neelam; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I.; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L. (Journal article; Peer reviewed, 2020-10-01)
      Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), ...