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2019 | 1 |
2022 | 1 |
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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003756. doi: 10.1101/mcs.a003756. Print 2019 Apr.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 30755392
Free PMC article.
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F.
Buchh M, et al.
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 36442996
Free PMC article.
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