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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. medRxiv [Preprint]. 2024 Mar 5:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.
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.
T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.
Schratz KE, Flasch DA, Atik CC, Cosner ZL, Blackford AL, Yang W, Gable DL, Vellanki PJ, Xiang Z, Gaysinskaya V, Vonderheide RH, Rooper LM, Zhang J, Armanios M. Schratz KE, et al. Among authors: gable dl. Cancer Cell. 2023 Apr 10;41(4):807-817.e6. doi: 10.1016/j.ccell.2023.03.005. Epub 2023 Apr 2. Cancer Cell. 2023. PMID: 37037617 Free PMC article.
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Chopra M, et al. Among authors: gable dl. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. Ann Clin Transl Neurol. 2022. PMID: 35076175 Free PMC article.
Short telomere syndromes cause a primary T cell immunodeficiency.
Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Wagner CL, et al. Among authors: gable dl. J Clin Invest. 2018 Dec 3;128(12):5222-5234. doi: 10.1172/JCI120216. Epub 2018 Oct 22. J Clin Invest. 2018. PMID: 30179220 Free PMC article.
Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.
Parry EM, Gable DL, Stanley SE, Khalil SE, Antonescu V, Florea L, Armanios M. Parry EM, et al. Among authors: gable dl. J Thorac Oncol. 2017 Nov;12(11):1673-1678. doi: 10.1016/j.jtho.2017.08.011. Epub 2017 Aug 24. J Thorac Oncol. 2017. PMID: 28843361 Free PMC article.
14 results