Kirsten Blanco

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Johanna Schmidt, Amy Pizzino, Jessica Nicholl et al. · American Journal of Medical Genetics Part A · 2020 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

Zöe Powis, Kelly D. Farwell Hagman, Virginia Speare et al. · Genetics in Medicine · 2018 · 37 citations · Full text

Medicine, Genetics, Pediatrics +17

Quality of Clinician-Reported Cancer History When Ordering Genetic Testing

Holly LaDuca, Rachel McFarland, Stephanie Gutierrez et al. · JCO Clinical Cancer Informatics · 2018 · 29 citations · Full text

Life Sciences, Genetics, Oncology +14

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

Zöe Powis, Meghan C. Towne, Kelly D. Farwell Hagman et al. · Clinical Genetics · 2019 · 29 citations

Medicine, Genetics, Neurology +16

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

Emily M. Spelbrink, Tanya L. Brown, Elise Brimble et al. · Frontiers in Genetics · 2023 · 18 citations · Full text

Life Sciences, Genetics, Neurology +17