Amy L. Lee

MAP1B mutations cause intellectual disability and extensive white matter deficit

H. Stefánsson, A. Ingason, S. Steinberg, 2018, Nature Communications.

MAP1B mutations cause intellectual disability and extensive white matter deficit

H. Stefánsson, A. Ingason, S. Steinberg, 2018, Nature Communications.

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Communications Biology.

A new Caenorhabditis elegans model of human huntingtin 513 aggregation and toxicity in body wall muscles

Elise A. Kikis, Amy L. Lee, L. P. Sands, 2017, PloS one.

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2020, Communications Biology.

Novel Polyglutamine Model Uncouples Proteotoxicity from Aging

Elise A. Kikis, Amy L. Lee, N. Christie, 2014, PloS one.

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Communications Biology.