Shaun Botes

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Agata Minor, Marwan Shinawi, Jacob S. Hogue et al. · Gene · 2014 · 36 citations

Life Sciences, Genetics, Molecular Genetics +6

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach

Gorka Alkorta‐Aranburu, Madina Sukhanova, David Carmody et al. · Journal of Pediatric Endocrinology and Metabolism · 2016 · 18 citations

Medicine, Genetics, Molecular Genetics +16

Analysis of <i><scp>ASPM</scp></i> in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

CA Tan, Daniela del Gaudio, Melissa A Dempsey et al. · Clinical Genetics · 2013 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

Ruthann Pfau, Devon Lamb Thrush, Elizabeth Hamelberg et al. · European Journal of Medical Genetics · 2013 · 12 citations

Medicine, Genetics, Pediatrics +16