Stephanie Gandomi

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 462 citations · Full text

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Holly LaDuca, Aaron J. Stuenkel, Jill S. Dolinsky et al. · Genetics in Medicine · 2014 · 335 citations · Full text

Diagnostic Exome Sequencing Identifies Two Novel <i>IQSEC2</i> Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

Stephanie Gandomi, Kelly Gonzalez, M. Parra et al. · Journal of Genetic Counseling · 2013 · 46 citations · Full text

Neurogenomics, Neurological Disorder, Genetics +18

Array‐<scp>CGH</scp> is an effective first‐tier diagnostic test for <i><scp>EFTUD2</scp></i>‐associated congenital mandibulofacial dysostosis with microcephaly

Stephanie Gandomi, M. Parra, Dawn M. Reeves et al. · Clinical Genetics · 2013 · 20 citations · Full text

Developmental Anomaly, Sporadic Malformation Syndrome, Congenital Mandibulofacial Dysostosis +15

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Jennifer Roberts, Stephanie Gandomi, Melissa Parra et al. · Case Reports in Genetics · 2014 · 17 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +13