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Page 1
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: phatnani h. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Spatial mapping of cellular senescence: emerging challenges and opportunities.
Gurkar AU, Gerencser AA, Mora AL, Nelson AC, Zhang AR, Lagnado AB, Enninful A, Benz C, Furman D, Beaulieu D, Jurk D, Thompson EL, Wu F, Rodriguez F, Barthel G, Chen H, Phatnani H, Heckenbach I, Chuang JH, Horrell J, Petrescu J, Alder JK, Lee JH, Niedernhofer LJ, Kumar M, Königshoff M, Bueno M, Sokka M, Scheibye-Knudsen M, Neretti N, Eickelberg O, Adams PD, Hu Q, Zhu Q, Porritt RA, Dong R, Peters S, Victorelli S, Pengo T, Khaliullin T, Suryadevara V, Fu X, Bar-Joseph Z, Ji Z, Passos JF. Gurkar AU, et al. Among authors: phatnani h. Nat Aging. 2023 Jul;3(7):776-790. doi: 10.1038/s43587-023-00446-6. Epub 2023 Jul 3. Nat Aging. 2023. PMID: 37400722 Free PMC article. Review.
Tissue and cellular spatiotemporal dynamics in colon aging.
Daly AC, Cambuli F, Äijö T, Lötstedt B, Marjanovic N, Kuksenko O, Smith-Erb M, Fernandez S, Domovic D, Van Wittenberghe N, Drokhlyansky E, Griffin GK, Phatnani H, Bonneau R, Regev A, Vickovic S. Daly AC, et al. Among authors: phatnani h. bioRxiv [Preprint]. 2024 Apr 26:2024.04.22.590125. doi: 10.1101/2024.04.22.590125. bioRxiv. 2024. PMID: 38712088 Free PMC article. Preprint.
The broken Alzheimer's disease genome.
Gouveia Roque C, Phatnani H, Hengst U. Gouveia Roque C, et al. Among authors: phatnani h. Cell Genom. 2024 Apr 23:100555. doi: 10.1016/j.xgen.2024.100555. Online ahead of print. Cell Genom. 2024. PMID: 38697121 Free article. Review.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: phatnani h. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: phatnani h. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Among authors: phatnani h. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
A cellular taxonomy of the adult human spinal cord.
Yadav A, Matson KJE, Li L, Hua I, Petrescu J, Kang K, Alkaslasi MR, Lee DI, Hasan S, Galuta A, Dedek A, Ameri S, Parnell J, Alshardan MM, Qumqumji FA, Alhamad SM, Wang AP, Poulen G, Lonjon N, Vachiery-Lahaye F, Gaur P, Nalls MA, Qi YA, Maric D, Ward ME, Hildebrand ME, Mery PF, Bourinet E, Bauchet L, Tsai EC, Phatnani H, Le Pichon CE, Menon V, Levine AJ. Yadav A, et al. Among authors: phatnani h. Neuron. 2023 Feb 1;111(3):328-344.e7. doi: 10.1016/j.neuron.2023.01.007. Neuron. 2023. PMID: 36731429 Free PMC article.
57 results