Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

121 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
Neurophysiological outcomes that sustained clinically significant improvements over 3 years of physiologic ECAP-controlled closed-loop spinal cord stimulation for the treatment of chronic pain.
Mekhail NA, Levy RM, Deer TR, Kapural L, Li S, Amirdelfan K, Hunter CW, Rosen SM, Costandi SJ, Falowski SM, Burgher AH, Pope JE, Gilmore CA, Qureshi FA, Staats PS, Scowcroft J, McJunkin T, Kim CK, Yang MI, Stauss T, Rauck R, Duarte RV, Soliday N, Leitner A, Hanson E, Ouyang Z, Mugan D, Poree L. Mekhail NA, et al. Among authors: rosen sm. Reg Anesth Pain Med. 2024 Mar 15:rapm-2024-105370. doi: 10.1136/rapm-2024-105370. Online ahead of print. Reg Anesth Pain Med. 2024. PMID: 38490687
121 results