Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

Por Alkorta-Aranburu, G., Carmody, D., Cheng, Y.W., Nelakuditi, V., Ma, L., Dickens, Jazzmyne T., Das, S., Greeley, S.A.W., del Gaudio, D.
Publicado no Mol Genet Metab (2014)

Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds

Por Andresen, J M, Gayán, J, Cherny, S S, Brocklebank, D, Alkorta‐Aranburu, G, Addis, E A, Group, The US‐Venezuela Collaborative Research, Cardon, L R, Housman, D E, Wexler, N S
Publicado em 2007

Continued Lessons from the INS Gene: An Intronic Mutation Causing Diabetes through a Novel Mechanism

Por Carmody, David, Park, Soo-Young, Ye, Honggang, Perrone, Marie E, Alkorta-Aranburu, G., Highland, Heather M, Hanis, Craig L, Philipson, Louis H, Bell, Graeme I, Greeley, Siri Atma W
Publicado no J Med Genet (2015)

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes

Por Guidugli, L, Johnson, A K, Alkorta-Aranburu, G, Nelakuditi, V, Arndt, K, Churpek, J E, Godley, L A, Townsley, D, Young, N S, Fitzpatrick, C, del Gaudio, D, Das, S, Li, Z
Publicado no Leukemia (2017)