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Newborn Sequencing in Genomic Medicine and Public Health.
Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Berg JS, et al. Among authors: brenner se. Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17. Pediatrics. 2017. PMID: 28096516 Free PMC article. Clinical Trial.
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Among authors: brenner se. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33293547
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
McInnes G, Sharo AG, Koleske ML, Brown JEH, Norstad M, Adhikari AN, Wang S, Brenner SE, Halpern J, Koenig BA, Magnus DC, Gallagher RC, Giacomini KM, Altman RB. McInnes G, et al. Among authors: brenner se. Am J Hum Genet. 2021 Apr 1;108(4):535-548. doi: 10.1016/j.ajhg.2021.03.003. Am J Hum Genet. 2021. PMID: 33798442 Free PMC article. Review.
Newborn screening for neurodevelopmental diseases: Are we there yet?
Chung WK, Berg JS, Botkin JR, Brenner SE, Brosco JP, Brothers KB, Currier RJ, Gaviglio A, Kowtoniuk WE, Olson C, Lloyd-Puryear M, Saarinen A, Sahin M, Shen Y, Sherr EH, Watson MS, Hu Z. Chung WK, et al. Among authors: brenner se. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):222-230. doi: 10.1002/ajmg.c.31988. Epub 2022 Jul 15. Am J Med Genet C Semin Med Genet. 2022. PMID: 35838066 Free PMC article.
Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: brenner se. NPJ Genom Med. 2021 Sep 23;6(1):77. doi: 10.1038/s41525-021-00241-5. NPJ Genom Med. 2021. PMID: 34556655 Free PMC article.
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: brenner se. NPJ Genom Med. 2021 Oct 12;6(1):88. doi: 10.1038/s41525-021-00251-3. NPJ Genom Med. 2021. PMID: 34642307 Free PMC article. No abstract available.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Among authors: brenner se. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
195 results