1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay

Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

Charles Antzelevitch, Guido D. Pollevick, Jonathan M. Cordeiro et al. · Circulation · 2007 · 935 citations · Full text

Medicine, Cardiology, Genetics +17

Activation of Transcription Factor NF-κB Requires ELKS, an IκB Kinase Regulatory Subunit

Jeanette L. Ducut Sigala, Virginie Bottero, David B. Young et al. · Science · 2004 · 218 citations

Life Sciences, Cell Biology, Molecular Biology +15

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Christiane Tasse, Stefan Böhringer, Sven Fischer et al. · European Journal of Medical Genetics · 2005 · 214 citations

Medicine, Ophthalmology, Radiology +8

The Hypoxia-controlled FBXL14 Ubiquitin Ligase Targets SNAIL1 for Proteasome Degradation

Rosa Viñas-Castells, Manuel Beltrán, Gabriela Valls et al. · Journal of Biological Chemistry · 2009 · 171 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

Fusion of a novel gene,ELKS, toRET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma

Tomoko Nakata, Yutaka Kitamura, Kazuo Shimizu et al. · Genes Chromosomes and Cancer · 1999 · 132 citations

Medicine, Molecular Biology, Molecular Genetics +17