Julie Scuffins

Julie Scuffins

GeneDx - - / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4554915
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person_outline Julie Scuffins's MOST POPULAR ARTICLES
1-) Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal developmentCL Yates, KG Monaghan, D Copenheaver, K Retterer, J Scuffins, ...Genetics in Medicine 19 (10), 1171-1178, 20171142017
2-) Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortK Retterer, J Scuffins, D Schmidt, R Lewis, D Pineda-Alvarez, A Stafford, ...Genetics in Medicine 17 (8), 623-629, 20151072015
3-) Molecular diagnostic yield of exome sequencing in patients with cerebral palsyA Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ...Jama 325 (5), 467-475, 2021442021
4-) Mobile element insertion detection in 89,874 clinical exomesRI Torene, K Galens, S Liu, K Arvai, C Borroto, J Scuffins, Z Zhang, ...Genetics in Medicine 22 (5), 974-978, 2020602020
5-) Uniparental disomy in a population of 32,067 clinical exome triosJ Scuffins, J Keller-Ramey, L Dyer, G Douglas, R Torene, V Gainullin, ...Genetics in Medicine 23 (6), 1101-1107, 2021472021