Karen E. Cosgrove

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Maria Bitner‐Glindzicz, Keith Lindley, Paul Rutland et al. · Nature Genetics · 2000 · 324 citations

Infantile Hyperinsulinism, Mendelian Disorder, Genetic Disorder +9

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

Timo Otonkoski, Carina Ämmälä, Hanna Huopio et al. · Diabetes · 1999 · 154 citations

Sulfonylurea Receptor, Insulin Signaling, Persistent Hyperinsulinemic Hypoglycemia +15

Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism

Hima Bindu Avatapalle, Indraneel Banerjee, Sajni Shah et al. · Frontiers in Endocrinology · 2013 · 116 citations · Full text

Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity

Sharona Tornovsky, Ana Crane, Karen E. Cosgrove et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 86 citations

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism

Indraneel Banerjee, Mars Skae, Sarah E. Flanagan et al. · European Journal of Endocrinology · 2011 · 85 citations