Edward S. Tobias

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

The TES gene at 7q31.1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein

Edward S. Tobias, Adam Hurlstone, Elaine D. MacKenzie et al. · Oncogene · 2001 · 101 citations

Tumor Biology, Medicine, Tes Gene +9

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal et al. · American Journal of Medical Genetics Part A · 2015 · 94 citations · Full text

Short Stature, Genetics, Related Phenotype +22

Cerebro-oculo-facio-skeletal syndrome: three additional cases with <i>CSB</i> mutations, new diagnostic criteria and an approach to investigation

Vincent Laugel, C Dalloz, Edward S. Tobias et al. · Journal of Medical Genetics · 2008 · 79 citations

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen et al. · Genetics in Medicine · 2019 · 63 citations · Full text