Julie Scuffins

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Carin Yates, Kristin G. Monaghan, Deborah Copenheaver et al. · Genetics in Medicine · 2017 · 175 citations · Full text

Developmental Anomaly, Ultrasound Anomalies, Developmental Biology +12

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Kyle Retterer, Julie Scuffins, Daniel Schmidt et al. · Genetics in Medicine · 2014 · 142 citations · Full text

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta et al. · JAMA · 2021 · 119 citations · Full text

Mobile element insertion detection in 89,874 clinical exomes

Rebecca I. Torene, Kevin Galens, Shuxi Liu et al. · Genetics in Medicine · 2020 · 62 citations · Full text

Uniparental disomy in a population of 32,067 clinical exome trios

Julie Scuffins, Jennifer Keller‐Ramey, Lindsay Dyer et al. · Genetics in Medicine · 2021 · 52 citations · Full text