Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy

Pamela M. Thomas, Gilbert J. Cote, Nelson Wohllk et al. · Science · 1995 · 816 citations

Medicine, Genetics, Molecular Genetics +16

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu et al. · New England Journal of Medicine · 1998 · 672 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation

Benjamin Gläser, Prebakaran Kesavan, Mozhgan Heyman et al. · New England Journal of Medicine · 1998 · 570 citations

Life Sciences, Endocrinology, Genetics +17

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer, Bernard Grisart, M. Cristina Digilio et al. · The American Journal of Human Genetics · 2011 · 379 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17