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Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.
Pediatr Crit Care Med. 2024 Apr 26. doi: 10.1097/PCC.0000000000003522. Online ahead of print.
Pediatr Crit Care Med. 2024.
PMID: 38668387
Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.
Allred ET, Perens EA, Coufal NG, Sanford Kobayashi E, Kingsmore SF, Dimmock DP.
Allred ET, et al. Among authors: sanford kobayashi e.
Front Pediatr. 2023 Mar 14;11:1157630. doi: 10.3389/fped.2023.1157630. eCollection 2023.
Front Pediatr. 2023.
PMID: 36999085
Free PMC article.
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Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.
Sanford Kobayashi E, Batalov S, Wenger AM, Lambert C, Dhillon H, Hall RJ, Baybayan P, Ding Y, Rego S, Wigby K, Friedman J, Hobbs C, Bainbridge MN.
Sanford Kobayashi E, et al.
Sci Rep. 2022 Oct 9;12(1):16945. doi: 10.1038/s41598-022-20113-x.
Sci Rep. 2022.
PMID: 36210382
Free PMC article.
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Better and faster is cheaper.
Sanford Kobayashi EF, Dimmock DP.
Sanford Kobayashi EF, et al.
Hum Mutat. 2022 Nov;43(11):1495-1506. doi: 10.1002/humu.24422. Epub 2022 Jun 27.
Hum Mutat. 2022.
PMID: 35723630
Review.
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Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.
Sanford Kobayashi E, Waldman B, Engorn BM, Perofsky K, Allred E, Briggs B, Gatcliffe C, Ramchandar N, Gold JJ, Doshi A, Ingulli EG, Thornburg CD, Benson W, Farnaes L, Chowdhury S, Rego S, Hobbs C, Kingsmore SF, Dimmock DP, Coufal NG.
Sanford Kobayashi E, et al.
Front Pediatr. 2022 Jan 24;9:809536. doi: 10.3389/fped.2021.809536. eCollection 2021.
Front Pediatr. 2022.
PMID: 35141181
Free PMC article.
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