Diana Darcy

Mosaic paternal genome‐wide uniparental isodisomy with down syndrome

Diana Darcy, Paldeep S. Atwal, Cathy Angell et al. · American Journal of Medical Genetics Part A · 2015 · 62 citations

Life Sciences, Genetics, Molecular Genetics +17

Further evidence that <i>de novo</i> missense and truncating variants in <i><scp>ZBTB18</scp></i> cause intellectual disability with variable features

Julie S. Cohen, Siddharth Srivastava, Kelly D. Farwell Hagman et al. · Clinical Genetics · 2016 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cystic Fibrosis Carrier Screening in Obstetric Clinical Practice: Knowledge, Practices, and Barriers, a Decade After Publication of Screening Guidelines

Diana Darcy, Lü Tian, Joanne Taylor et al. · Genetic Testing and Molecular Biomarkers · 2011 · 30 citations

Medicine, Maternal Health, Obstetrics +17

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Diana Darcy, Scott Rosenthal, Robert Wallerstein · Case Reports in Genetics · 2011 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

Diana Darcy, Eleanor T. Lewis, Kelly E. Ormond et al. · BMC Health Services Research · 2011 · 10 citations · Full text

Computing, Genetics, Health Informatics +14