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Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Roy S, Coldren C, Karunamurthy A, Kip NS, Klee EW, Lincoln SE, Leon A, Pullambhatla M, Temple-Smolkin RL, Voelkerding KV, Wang C, Carter AB. Roy S, et al. Among authors: leon a. J Mol Diagn. 2018 Jan;20(1):4-27. doi: 10.1016/j.jmoldx.2017.11.003. Epub 2017 Nov 21. J Mol Diagn. 2018. PMID: 29154853 Free article. Review.
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation: A Joint Report of the Association for Molecular Pathology, Association for Pathology Informatics, and College of American Pathologists.
Duncavage EJ, Coleman JF, de Baca ME, Kadri S, Leon A, Routbort M, Roy S, Suarez CJ, Vanderbilt C, Zook JM. Duncavage EJ, et al. Among authors: leon a. J Mol Diagn. 2023 Jan;25(1):3-16. doi: 10.1016/j.jmoldx.2022.09.007. Epub 2022 Oct 13. J Mol Diagn. 2023. PMID: 36244574 Free article. Review.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: leon a. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Disparities in casemix, acute interventions, discharge destinations and mortality of patients with traumatic brain injury between Europe and India.
Gupta D, Singh RD, Vreeburg RJ, van Dijck JT, den Boogert HF, Sharma K, Praneeth K, Clarke DB, Lecky FE, Maas AI, Sinha VD, de Ruiter GC, Peul WC, van Essen TA; CENTER-TBI; CINTER-TBI. Gupta D, et al. J Glob Health. 2024 Nov 11;14:04227. doi: 10.7189/jogh.14.04227. J Glob Health. 2024. PMID: 39526450 Free article.
2,447 results