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High attenuation areas on chest computed tomography in community-dwelling adults: the MESA study.
Podolanczuk AJ, Oelsner EC, Barr RG, Hoffman EA, Armstrong HF, Austin JH, Basner RC, Bartels MN, Christie JD, Enright PL, Gochuico BR, Hinckley Stukovsky K, Kaufman JD, Hrudaya Nath P, Newell JD Jr, Palmer SM, Rabinowitz D, Raghu G, Sell JL, Sieren J, Sonavane SK, Tracy RP, Watts JR, Williams K, Kawut SM, Lederer DJ. Podolanczuk AJ, et al. Among authors: gochuico br. Eur Respir J. 2016 Nov;48(5):1442-1452. doi: 10.1183/13993003.00129-2016. Epub 2016 Jul 28. Eur Respir J. 2016. PMID: 27471206 Free PMC article.
Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism.
Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L, Aschenbrenner D, Kim-Schulze S, Lam YK, Berridge G, McGovern DPB, Kessler B, Fischer R, Klenerman P, Hester J, Issa F, Torres EA, Powrie F, Gochuico BR, Gahl WA, Cohen L, Uhlig HH. Cavounidis A, et al. Among authors: gochuico br. Mucosal Immunol. 2022 Jun;15(6):1431-1446. doi: 10.1038/s41385-022-00572-1. Epub 2022 Oct 27. Mucosal Immunol. 2022. PMID: 36302964 Free PMC article.
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
Malechka VV, Duong D, Bordonada KD, Turriff A, Blain D, Murphy E, Introne WJ, Gochuico BR, Adams DR, Zein WM, Brooks BP, Huryn LA, Solomon BD, Hufnagel RB. Malechka VV, et al. Among authors: gochuico br. Ophthalmol Sci. 2022 Sep 24;3(1):100225. doi: 10.1016/j.xops.2022.100225. eCollection 2023 Mar. Ophthalmol Sci. 2022. PMID: 36339947 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Early interstitial lung disease in familial pulmonary fibrosis.
Rosas IO, Ren P, Avila NA, Chow CK, Franks TJ, Travis WD, McCoy JP Jr, May RM, Wu HP, Nguyen DM, Arcos-Burgos M, MacDonald SD, Gochuico BR. Rosas IO, et al. Among authors: gochuico br. Am J Respir Crit Care Med. 2007 Oct 1;176(7):698-705. doi: 10.1164/rccm.200702-254OC. Epub 2007 Jul 19. Am J Respir Crit Care Med. 2007. PMID: 17641157 Free PMC article.
116 results