Latrice Wysinger

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

Copy number analysis of <i>NIPBL</i> in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Yuwei Cheng, Christopher Tan, Agata Minor et al. · Molecular Genetics & Genomic Medicine · 2013 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17