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Mobile element insertion detection in 89,874 clinical exomes.
Genet Med. 2020 May;22(5):974-978. doi: 10.1038/s41436-020-0749-x. Epub 2020 Jan 22.
Genet Med. 2020.
PMID: 31965078
Free PMC article.
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins J, Kucera CR, Friedman B, Richard G, Juusola J.
Yates CL, et al. Among authors: scuffins j.
Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
Genet Med. 2017.
PMID: 28425981
Free article.
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Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J, Keller-Ramey J, Dyer L, Douglas G, Torene R, Gainullin V, Juusola J, Meck J, Retterer K.
Scuffins J, et al.
Genet Med. 2021 Jun;23(6):1101-1107. doi: 10.1038/s41436-020-01092-8. Epub 2021 Jan 25.
Genet Med. 2021.
PMID: 33495530
Free PMC article.
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Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Retterer K, Scuffins J, Schmidt D, Lewis R, Pineda-Alvarez D, Stafford A, Schmidt L, Warren S, Gibellini F, Kondakova A, Blair A, Bale S, Matyakhina L, Meck J, Aradhya S, Haverfield E.
Retterer K, et al. Among authors: scuffins j.
Genet Med. 2015 Aug;17(8):623-9. doi: 10.1038/gim.2014.160. Epub 2014 Nov 6.
Genet Med. 2015.
PMID: 25356966
Free article.
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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL.
Moreno-De-Luca A, et al. Among authors: scuffins j.
JAMA. 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148.
JAMA. 2021.
PMID: 33528536
Free PMC article.
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