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734 results

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Page 1
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: washington m. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. Marom R, et al. Among authors: washington me. PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov. PLoS Genet. 2023. PMID: 37934770 Free PMC article.
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Marom R, Song IW, Busse EC, Washington ME, Berrier AS, Rossi VC, Ortinau L, Jeong Y, Jiang MM, Dawson BC, Adeyeye M, Leynes C, Lietman CD, Stroup BM, Batkovskyte D, Jain M, Chen Y, Cela R, Castellon A, Tran AA, Lorenzo I, Meyers DN, Huang S, Turner A, Shenava V, Wallace M, Orwoll E, Park D, Ambrose CG, Nagamani SC, Heaney JD, Lee BH. Marom R, et al. Among authors: washington me. J Clin Invest. 2024 Jun 17;134(15):e170369. doi: 10.1172/JCI170369. J Clin Invest. 2024. PMID: 38885336 Free PMC article.
Data-driven nucleus subclassification on colon hematoxylin and eosin using style-transferred digital pathology.
Remedios LW, Bao S, Remedios SW, Lee HH, Cai LY, Li T, Deng R, Newlin NR, Saunders AM, Cui C, Li J, Liu Q, Lau KS, Roland JT, Washington MK, Coburn LA, Wilson KT, Huo Y, Landman BA. Remedios LW, et al. Among authors: washington mk. J Med Imaging (Bellingham). 2024 Nov;11(6):067501. doi: 10.1117/1.JMI.11.6.067501. Epub 2024 Nov 5. J Med Imaging (Bellingham). 2024. PMID: 39507410
Prospective, multi-site evaluation of the Cepheid Xpert Xpress CoV-2 plus test on nasal and nasopharyngeal swabs.
Greninger AL, Larcena A, Patel A, Webster B, Ulen C, Green DF, King D, Patel DR, McElvania E, Harnett G, Jandali I, Gibson J, Killion J, Atwi J, Bergmann K, Slade L, Allen Staat M, Faron M, Washington M, Patel R, Annamalai R, Ackerman R, Stewart WP 3rd, Amador YM, Rao D, Liu X, Raman A. Greninger AL, et al. Among authors: washington m. J Clin Microbiol. 2024 Nov 6:e0121924. doi: 10.1128/jcm.01219-24. Online ahead of print. J Clin Microbiol. 2024. PMID: 39503494 Free article.
Overview and Methods for the Youth Risk Behavior Surveillance System - United States, 2023.
Brener ND, Mpofu JJ, Krause KH, Everett Jones S, Thornton JE, Myles Z, Harris WA, Chyen D, Lim C, Arrey L, Mbaka CK, Trujillo L, Shanklin SL, Smith-Grant J, Whittle L, McKinnon II, Washington M, Queen BE, Roberts AM. Brener ND, et al. Among authors: washington m. MMWR Suppl. 2024 Oct 10;73(4):1-12. doi: 10.15585/mmwr.su7304a1. MMWR Suppl. 2024. PMID: 39378301 Free PMC article.
Purified CDT toxins and a clean deletion within the CDT locus provide novel insights into the contribution of binary toxin in cellular inflammation and Clostridioides difficile infection.
Nabukhotna K, Kordus SL, Shupe JA, Cano Rodríguez R, Smith A, Bohannon JK, Washington MK, Lacy DB. Nabukhotna K, et al. Among authors: washington mk. PLoS Pathog. 2024 Sep 19;20(9):e1012568. doi: 10.1371/journal.ppat.1012568. eCollection 2024 Sep. PLoS Pathog. 2024. PMID: 39298531 Free PMC article.
734 results