Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

Primary structure and functional characterization of a high-affinity glutamate transporter

Yoshikatsu Kanai, Matthias A. Hediger · Nature · 1992 · 1.3K citations

Life Sciences, Neurobiology, Neuroscience +15

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Doris A. Stoffers, Noah T. Zinkin, V Stanojević et al. · Nature Genetics · 1997 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Mutations in PTF1A cause pancreatic and cerebellar agenesis

Gabrielle S. Sellick, Karen Barker, Irene Stolte‐Dijkstra et al. · Nature Genetics · 2004 · 460 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

Helge Ræder, Stefan Johansson, Pål I. Holm et al. · Nature Genetics · 2005 · 377 citations

Medicine, Genetics, Molecular Genetics +13

Glutamate transporter EAAC‐1‐deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration

Pietro Peghini, Julia Janzen, Wilhelm Stoffel · The EMBO Journal · 1997 · 342 citations · Full text

Life Sciences, Genetics, Neuroscience +16