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Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S. Ramsey K, et al. Among authors: bonfitto a. Mol Genet Genomic Med. 2022 Feb;10(2):e1857. doi: 10.1002/mgg3.1857. Epub 2022 Jan 7. Mol Genet Genomic Med. 2022. PMID: 34994087 Free PMC article. No abstract available.
Muscle transcriptomic circuits linked to periarticular physiology in end-stage osteoarthritis.
Drummer DJ, Lavin KM, Graham ZA, O'Bryan SM, McAdam JS, Lixandrão ME, Seay R, Aban I, Siegel HJ, Ghanem E, Singh JA, Bonfitto A, Antone J, Reiman R, Hutchins E, Van Keuren-Jensen K, Schutzler SE, Barnes CL, Ferrando AA, Bridges SL Jr, Bamman MM. Drummer DJ, et al. Among authors: bonfitto a. Physiol Genomics. 2022 Dec 1;54(12):501-513. doi: 10.1152/physiolgenomics.00092.2022. Epub 2022 Oct 24. Physiol Genomics. 2022. PMID: 36278270 Free PMC article.
Participation of under-represented communities in an online cognitive ageing platform and predictors of willingness to be contacted for future research.
Ellingson KD, Degnan WJ, Nuño T, Horton A, Carrasco C, Rubio M, Yang Y, DeBoth MD, Johnson M, Venkatachalam H, LaFleur BJ, Ryan L, Barnes CA, Coon DW, Huentelman M, Chen Z; Precision Aging Network (PAN). Ellingson KD, et al. BMJ Public Health. 2025 Jun 20;3(1):e001721. doi: 10.1136/bmjph-2024-001721. eCollection 2025. BMJ Public Health. 2025. PMID: 40551970 Free PMC article.
Divergent multiomic acute exercise responses reveal the impact of sex as a biological variable.
Lavin KM, O'Bryan SM, Pathak KV, Garcia-Mansfield K, Graham ZA, McAdam JS, Drummer DJ, Bell MB, Kelley CJ, Lixandrão ME, Peoples B, Seay RS, Torres AR, Reiman R, Alsop E, Hutchins E, Bonfitto A, Antone J, Palade J, Van Keuren-Jensen K, Huentelman MJ, Pirrotte P, Broderick T, Bamman MM. Lavin KM, et al. Among authors: bonfitto a. Physiol Genomics. 2025 May 1;57(5):321-342. doi: 10.1152/physiolgenomics.00055.2024. Epub 2025 Feb 27. Physiol Genomics. 2025. PMID: 40014011 Free article.
The genetics of TDP43-Type-C neurodegeneration: a whole genome sequencing study.
Nassan M, Ayala IA, Sloan J, Bonfitto A, Stark B, Song S, Naymik M, Geula C, Gefen T, Barbieri E, Piras IS, Mesulam MM, Huentelman MJ. Nassan M, et al. Among authors: bonfitto a. medRxiv [Preprint]. 2025 Jan 28:2025.01.25.25320561. doi: 10.1101/2025.01.25.25320561. medRxiv. 2025. PMID: 39973992 Free PMC article. Preprint.
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Jepsen WM, et al. Among authors: bonfitto a. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. Int J Mol Sci. 2024. PMID: 39595988 Free PMC article.
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Among authors: bonfitto a. Clin Genet. 2024 Jul;106(1):114-115. doi: 10.1111/cge.14542. Epub 2024 May 8. Clin Genet. 2024. PMID: 38715525
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