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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Schmitz-Abe K, et al. Among authors: rosen sm. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979967 Free PMC article.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. Among authors: rosen sm. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB. O'Connell AE, et al. Among authors: rosen sm. PLoS Genet. 2019 Feb 1;15(2):e1007917. doi: 10.1371/journal.pgen.1007917. eCollection 2019 Feb. PLoS Genet. 2019. PMID: 30707697 Free PMC article.
Maximal Analgesic Effect Attained by the Use of Objective Neurophysiological Measurements With Closed-Loop Spinal Cord Stimulation.
Levy RM, Mekhail NA, Kapural L, Gilmore CA, Petersen EA, Goree JH, Pope JE, Costandi SJ, Kallewaard JW, Thomson S, Gilligan C, AlFarra T, Broachwala MY, Chopra H, Hunter CW, Rosen SM, Amirdelfan K, Falowski SM, Li S, Scowcroft J, Lad SP, Sayed D, Antony A, Deer TR, Hayek SM, Guirguis MN, Boeding RB, Calodney AK, Bruel B, Buchanan P, Soliday N, Duarte RV, Leitner A, Staats PS. Levy RM, et al. Among authors: rosen sm. Neuromodulation. 2024 Sep 9:S1094-7159(24)00655-X. doi: 10.1016/j.neurom.2024.07.003. Online ahead of print. Neuromodulation. 2024. PMID: 39254621 Free article.
Identifying SCS Trial Responders Immediately After Postoperative Programming with ECAP Dose-Controlled Closed-Loop Therapy.
Pope JE, Antony A, Petersen EA, Rosen SM, Sayed D, Hunter CW, Goree JH, Vu CM, Bhandal HS, Shumsky PM, Bromberg TA, Smith GL, Lam CM, Kalia H, Lee JM, Khurram A, Gould I, Karantonis DM, Deer TR. Pope JE, et al. Among authors: rosen sm. Pain Ther. 2024 Oct;13(5):1173-1185. doi: 10.1007/s40122-024-00631-4. Epub 2024 Jul 9. Pain Ther. 2024. PMID: 38977651 Free PMC article.
123 results