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An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.
Sasserath T, Robertson AL, Mendez R, Hays TT, Smith E, Cooper H, Akanda N, Rumsey JW, Guo X, Farkhondeh A, Pradhan M, Baumgaertel K, Might M, Rodems S, Zheng W, Hickman JJ. Sasserath T, et al. Among authors: might m. Adv Ther (Weinh). 2022 Nov;5(11):2200009. doi: 10.1002/adtp.202200009. Epub 2022 Jul 15. Adv Ther (Weinh). 2022. PMID: 36589922 Free PMC article.
Medical and psychosocial outcomes of state-funded population genomic screening.
Cannon A, McMillan O, Kelley WV, East KM, Cochran ME, Miskell EL, Moss IP, Garner-Duckworth S, Redden DT, Might M, Barsh GS, Korf BR. Cannon A, et al. Among authors: might m. Clin Genet. 2023 Oct;104(4):434-442. doi: 10.1111/cge.14394. Epub 2023 Jun 20. Clin Genet. 2023. PMID: 37340305
Generation and characterization of NGLY1 patient-derived midbrain organoids.
Abbott J, Tambe M, Pavlinov I, Farkhondeh A, Nguyen HN, Xu M, Pradhan M, York T, Might M, Baumgärtel K, Rodems S, Zheng W. Abbott J, et al. Among authors: might m. Front Cell Dev Biol. 2023 Feb 16;11:1039182. doi: 10.3389/fcell.2023.1039182. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36875753 Free PMC article.
Community-acquired bacterial coinfections and COVID-19.
Patton MJ, Gaggar A, Might M, Erdmann N, Orihuela CJ, Harrod KS. Patton MJ, et al. Among authors: might m. Physiol Rev. 2024 Jan 1;104(1):1-21. doi: 10.1152/physrev.00010.2023. Epub 2023 Aug 17. Physiol Rev. 2024. PMID: 37589392 No abstract available.
The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.
Foksinska A, Crowder CM, Crouse AB, Henrikson J, Byrd WE, Rosenblatt G, Patton MJ, He K, Tran-Nguyen TK, Zheng M, Ramsey SA, Amin N, Osborne J; UAB Precision Medicine Institute; Might M. Foksinska A, et al. Among authors: might m. Front Artif Intell. 2022 Sep 30;5:910216. doi: 10.3389/frai.2022.910216. eCollection 2022. Front Artif Intell. 2022. PMID: 36248623 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Characteristics and determinants of pulmonary long COVID.
Patton MJ, Benson D, Robison SW, Raval D, Locy ML, Patel K, Grumley S, Levitan EB, Morris P, Might M, Gaggar A, Erdmann N. Patton MJ, et al. Among authors: might m. JCI Insight. 2024 Apr 23;9(10):e177518. doi: 10.1172/jci.insight.177518. JCI Insight. 2024. PMID: 38652535 Free article.
128 results