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[No title available]
[No authors listed] [No authors listed] PMID: 33561070
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF. Aartsma-Rus A, et al. Among authors: howell rr. J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. J Pediatr. 2019. PMID: 30579468 Free article. No abstract available.
Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Vockley J, Aartsma-Rus A, Cohen JL, Cowsert LM, Howell RR, Yu TW, Wasserstein MP, Defay T. Vockley J, et al. Among authors: howell rr. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):19-29. doi: 10.1002/ajmg.c.32017. Epub 2022 Dec 1. Am J Med Genet C Semin Med Genet. 2023. PMID: 36453229
Academic program recommendations for graduate degrees in medical physics: AAPM Report No. 365 (Revision of Report No. 197).
Burmeister JW, Busse NC, Cetnar AJ, Howell RR, Jeraj R, Jones AK, King SH, Matthews KL 2nd, Montemayor VJ, Newhauser W, Rodrigues AE, Samei E, Turkington TV, Gronberg MP, Loughery B, Roth AR, Joiner MC, Jackson EF, Naine PA, Kim LH. Burmeister JW, et al. Among authors: howell rr. J Appl Clin Med Phys. 2022 Oct;23(10):e13792. doi: 10.1002/acm2.13792. Epub 2022 Oct 8. J Appl Clin Med Phys. 2022. PMID: 36208145 Free PMC article. No abstract available.
The Progress and Future of US Newborn Screening.
Watson MS, Lloyd-Puryear MA, Howell RR. Watson MS, et al. Among authors: howell rr. Int J Neonatal Screen. 2022 Jul 18;8(3):41. doi: 10.3390/ijns8030041. Int J Neonatal Screen. 2022. PMID: 35892471 Free PMC article. Review.
Ethical Issues Surrounding Newborn Screening.
Howell RR. Howell RR. Int J Neonatal Screen. 2021 Jan 9;7(1):3. doi: 10.3390/ijns7010003. Int J Neonatal Screen. 2021. PMID: 33435435 Free PMC article.
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.
Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. Glascock J, et al. Among authors: howell rr. J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468. J Neuromuscul Dis. 2020. PMID: 32007960 Free PMC article. No abstract available.
Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
Baker M, Griggs R, Byrne B, Connolly AM, Finkel R, Grajkowska L, Haidet-Phillips A, Hagerty L, Ostrander R, Orlando L, Swoboda K, Watson M, Howell RR. Baker M, et al. Among authors: howell rr. JAMA Neurol. 2019 Aug 1;76(8):978-983. doi: 10.1001/jamaneurol.2019.1206. JAMA Neurol. 2019. PMID: 31107518
145 results