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Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Among authors: gable d. medRxiv [Preprint]. 2024 Mar 5:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Pinto E Vairo F, et al. Among authors: gable dm. J Transl Med. 2023 Jun 23;21(1):410. doi: 10.1186/s12967-023-04183-7. J Transl Med. 2023. PMID: 37353797 Free article.
Real-world comparative claims analysis of a novel single-branched aortic stent graft device versus thoracic endograft placement with extra-anatomic debranching/revascularization in zone 2 aortic disease.
Ramakrishnan G, Beliveau L, Shinn K, Gable C, Brinkman W, Shutze W, Gable D. Ramakrishnan G, et al. Among authors: gable d. Proc (Bayl Univ Med Cent). 2023 May 22;36(4):422-426. doi: 10.1080/08998280.2023.2212585. eCollection 2023. Proc (Bayl Univ Med Cent). 2023. PMID: 37334086 Free PMC article.
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M. DeBoy EA, et al. Among authors: gable dl. N Engl J Med. 2023 Jun 29;388(26):2422-2433. doi: 10.1056/NEJMoa2300503. Epub 2023 May 4. N Engl J Med. 2023. PMID: 37140166 Free PMC article.
Extracorporeal membrane oxygenation for large pulmonary emboli.
George TJ, Sheasby J, Sawhney R, DiMaio JM, Afzal A, Gable D, Sayfo S. George TJ, et al. Among authors: gable d. Proc (Bayl Univ Med Cent). 2023 Feb 9;36(3):314-317. doi: 10.1080/08998280.2023.2171699. eCollection 2023. Proc (Bayl Univ Med Cent). 2023. PMID: 37091759 Free PMC article.
95 results