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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Peterson B, Hernandez EJ, Hobbs C, Malone Jenkins S, Moore B, Rosales E, Zoucha S, Sanford E, Bainbridge MN, Frise E, Oriol A, Brunelli L, Kingsmore SF, Yandell M. Peterson B, et al. Among authors: brunelli l. Genome Med. 2023 Mar 16;15(1):18. doi: 10.1186/s13073-023-01166-7. Genome Med. 2023. PMID: 36927505 Free PMC article.
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.
Malone Jenkins S, Palmquist R, Kapron AL, Torr C, Best DH, Karren MA, Brunelli L, Yandell M, Tristani-Firouzi M, Dimmock D, Watts B, Botkin JR, Johnson A, Bonkowsky JL. Malone Jenkins S, et al. Among authors: brunelli l. J Clin Transl Sci. 2021 Aug 9;5(1):e177. doi: 10.1017/cts.2021.833. eCollection 2021. J Clin Transl Sci. 2021. PMID: 34849253 Free PMC article.
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins S. Nicholas TJ, et al. Among authors: brunelli l. Mol Genet Genomic Med. 2022 Apr;10(4):e1888. doi: 10.1002/mgg3.1888. Epub 2022 Feb 4. Mol Genet Genomic Med. 2022. PMID: 35119225 Free PMC article.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L. Palmquist R, et al. Among authors: brunelli l. Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3. Pediatr Res. 2022. PMID: 35115709 Free PMC article.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
NICUSeq Study Group; Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. NICUSeq Study Group, et al. Among authors: brunelli l. JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496. JAMA Pediatr. 2021. PMID: 34570182 Free PMC article. Clinical Trial.
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Brunelli L, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13. Mol Genet Genomic Med. 2019. PMID: 31192527 Free PMC article.
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Brower A, et al. Among authors: brunelli l. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.
179 results