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The mitochondrial multi-omic response to exercise training across rat tissues.
Amar D, Gay NR, Jimenez-Morales D, Jean Beltran PM, Ramaker ME, Raja AN, Zhao B, Sun Y, Marwaha S, Gaul DA, Hershman SG, Ferrasse A, Xia A, Lanza I, Fernández FM, Montgomery SB, Hevener AL, Ashley EA, Walsh MJ, Sparks LM, Burant CF, Rector RS, Thyfault J, Wheeler MT, Goodpaster BH, Coen PM, Schenk S, Bodine SC, Lindholm ME; MoTrPAC Study Group. Amar D, et al. Among authors: marwaha s. Cell Metab. 2024 Jun 4;36(6):1411-1429.e10. doi: 10.1016/j.cmet.2023.12.021. Epub 2024 May 2. Cell Metab. 2024. PMID: 38701776 Free article.
The mitochondrial multi-omic response to exercise training across tissues.
Amar D, Gay NR, Jimenez-Morales D, Beltran PMJ, Ramaker ME, Raja AN, Zhao B, Sun Y, Marwaha S, Gaul D, Hershman SG, Xia A, Lanza I, Fernandez FM, Montgomery SB, Hevener AL, Ashley EA, Walsh MJ, Sparks LM, Burant CF, Rector RS, Thyfault J, Wheeler MT, Goodpaster BH, Coen PM, Schenk S, Bodine SC, Lindholm ME; MoTrPAC Study Group. Amar D, et al. Among authors: marwaha s. bioRxiv [Preprint]. 2023 Jan 13:2023.01.13.523698. doi: 10.1101/2023.01.13.523698. bioRxiv. 2023. Update in: Cell Metab. 2024 Jun 4;36(6):1411-1429.e10. doi: 10.1016/j.cmet.2023.12.021 PMID: 36711881 Free PMC article. Updated. Preprint.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. Spillmann RC, et al. Among authors: marwaha s. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36481303 Free PMC article.
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Arriaga MT, Mendez R, Ungar RA, Bonner DE, Matalon DR, Lemire G, Goddard PC, Padhi EM, Miller AM, Nguyen JV, Ma J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Bademci G, Bivona SA, Tekin M; Undiagnosed Disease Network; Genomics Research to Elucidate the Genetics of Rare Diseases consortium; Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS. Arriaga MT, et al. Among authors: marwaha s. medRxiv [Preprint]. 2025 Jan 3:2025.01.02.24318941. doi: 10.1101/2025.01.02.24318941. medRxiv. 2025. PMID: 39802771 Free PMC article. Preprint.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
344 results