Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes

CNVs conferring risk of autism or schizophrenia affect cognition in controls

Hreinn Stefánsson, Andreas Meyer‐Lindenberg, Stacy Steinberg et al. · Nature · 2013 · 732 citations · Full text

Medicine, Neuroscience, Psychiatry +11

Insulin Signaling in Health and Disease

Morris F. White · Science · 2003 · 725 citations

Life Sciences, Endocrinology, Molecular Biology +17

Distinct and sequential tissue-specific activities of the LIM-class homeobox gene <i>Lim1</i> for tubular morphogenesis during kidney development

Akio Kobayashi, Kin Ming Kwan, Thomas J. Carroll et al. · Development · 2005 · 353 citations · Full text

Life Sciences, Developmental Biology, Molecular Genetics +17

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky et al. · The American Journal of Human Genetics · 2010 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A transcriptional network in polycystic kidney disease

Lionel Gresh, Evelyne Fischer, Andreas Reimann et al. · The EMBO Journal · 2004 · 331 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +14