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Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med. 2021 Oct;23(10):1882-1888. doi: 10.1038/s41436-021-01211-z. Epub 2021 May 26.
Genet Med. 2021.
PMID: 34040190
Free PMC article.
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
Gordon DM, Cunningham D, Zender G, Lawrence PJ, Penaloza JS, Lin H, Fitzgerald-Butt SM, Myers K, Duong T, Corsmeier DJ, Gaither JB, Kuck HC, Wijeratne S, Moreland B, Kelly BJ; Baylor-Johns Hopkins Center for Mendelian Genomics; Garg V, White P, McBride KL.
Gordon DM, et al. Among authors: corsmeier dj.
PLoS Genet. 2022 Jun 23;18(6):e1010236. doi: 10.1371/journal.pgen.1010236. eCollection 2022 Jun.
PLoS Genet. 2022.
PMID: 35737725
Free PMC article.
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Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.
Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P.
Kelly BJ, et al. Among authors: corsmeier dj.
Genome Biol. 2015 Jan 20;16(1):6. doi: 10.1186/s13059-014-0577-x.
Genome Biol. 2015.
PMID: 25600152
Free PMC article.
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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR, Lee K, Pfau RB, Reshmi SC, Corsmeier DJ, Hashimoto S, Dave-Wala A, Jayaraman V, Koboldt D, Matthews T, Mouhlas D, Stein M, McKinney A, Grossman T, Kelly BJ, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE.
Miller CR, et al. Among authors: corsmeier dj.
Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005231. doi: 10.1101/mcs.a005231. Print 2020 Jun.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 32371413
Free PMC article.
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