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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: wolfe l. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
The cancer may be gone, but does the iron remain?
Wolfe L. Wolfe L. Pediatr Blood Cancer. 2024 Oct 13:e31380. doi: 10.1002/pbc.31380. Online ahead of print. Pediatr Blood Cancer. 2024. PMID: 39397312 No abstract available.
Oral swabs as a proxy for direct ruminal microbiome sampling in Holstein dairy cows is correlated with sample color.
Skarlupka JH, Cox MS, Steinberger AJ, Sbardellati DL, McClure JC, Bickhart DM, Scheftgen AJ, Zuniga-Chaves I, Wolfe LA, Paget E, Skadron C, Attipetty N, Suen G. Skarlupka JH, et al. Among authors: wolfe la. Front Microbiol. 2024 Sep 17;15:1466375. doi: 10.3389/fmicb.2024.1466375. eCollection 2024. Front Microbiol. 2024. PMID: 39355424 Free PMC article.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Distinctive evolution of alveolar T cell responses is associated with clinical outcomes in unvaccinated patients with SARS-CoV-2 pneumonia.
Markov NS, Ren Z, Senkow KJ, Grant RA, Gao CA, Malsin ES, Sichizya L, Kihshen H, Helmin KA, Jovisic M, Arnold JM, Pérez-Leonor XG, Abdala-Valencia H, Swaminathan S, Nwaezeapu J, Kang M, Rasmussen L, Ozer EA, Lorenzo-Redondo R, Hultquist JF, Simons LM, Rios-Guzman E, Misharin AV, Wunderink RG, Budinger GRS, Singer BD, Morales-Nebreda L; NU SCRIPT Study Investigators. Markov NS, et al. Nat Immunol. 2024 Sep;25(9):1607-1622. doi: 10.1038/s41590-024-01914-w. Epub 2024 Aug 13. Nat Immunol. 2024. PMID: 39138384
1,072 results