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 · 811 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Life Sciences, Molecular Genetics, Oncology +14

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

Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver et al. · American Journal of Medical Genetics Part A · 2015 · 98 citations · Full text

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17

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 · 80 citations

Life Sciences, Genetics, Molecular Genetics +9