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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: bulos ja. HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3. HGG Adv. 2023. PMID: 37660254 Free PMC article.
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: bulos ja. medRxiv [Preprint]. 2023 Jan 31:2023.01.30.23285099. doi: 10.1101/2023.01.30.23285099. medRxiv. 2023. PMID: 36778397 Free PMC article. Updated. Preprint.
Uncovering protein-protein interactions through a team-based undergraduate biochemistry course.
Cookmeyer DL, Winesett ES, Kokona B, Huff AR, Aliev S, Bloch NB, Bulos JA, Evans IL, Fagre CR, Godbe KN, Khromava M, Konstantinovsky DM, Lafrance AE, Lamacki AJ, Parry RC, Quinn JM, Thurston AM, Tsai KJS, Mollo A, Cryle MJ, Fairman R, Charkoudian LK. Cookmeyer DL, et al. Among authors: bulos ja. PLoS Biol. 2017 Nov 1;15(11):e2003145. doi: 10.1371/journal.pbio.2003145. eCollection 2017 Nov. PLoS Biol. 2017. PMID: 29091712 Free PMC article.