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14 results

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Page 1
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Ng JK, Vats P, Fritz-Waters E, Sarkar S, Sams EI, Padhi EM, Payne ZL, Leonard S, West MA, Prince C, Trani L, Jansen M, Vacek G, Samadi M, Harkins TT, Pohl C, Turner TN. Ng JK, et al. Among authors: padhi em. Hum Mutat. 2022 Dec;43(12):1979-1993. doi: 10.1002/humu.24455. Epub 2022 Sep 10. Hum Mutat. 2022. PMID: 36054329 Free PMC article.
Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart.
Marderstein AR, Kundu S, Padhi EM, Deshpande S, Wang A, Robb E, Sun Y, Yun CM, Pomales-Matos D, Xie Y, Nachun D, Jessa S, Kundaje A, Montgomery SB. Marderstein AR, et al. Among authors: padhi em. bioRxiv [Preprint]. 2025 Feb 20:2025.02.18.638922. doi: 10.1101/2025.02.18.638922. bioRxiv. 2025. PMID: 40027628 Free PMC article. Preprint.
The human and non-human primate developmental GTEx projects.
Coorens THH, Guillaumet-Adkins A, Kovner R, Linn RL, Roberts VHJ, Sule A, Van Hoose PM; dGTEx Consortium. Coorens THH, et al. Nature. 2025 Jan;637(8046):557-564. doi: 10.1038/s41586-024-08244-9. Epub 2025 Jan 15. Nature. 2025. PMID: 39815096 Review.
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: padhi em. medRxiv [Preprint]. 2025 Jan 3:2025.01.02.24318941. doi: 10.1101/2025.01.02.24318941. medRxiv. 2025. PMID: 39802771 Free PMC article. Preprint.
Single-cell multi-omics map of human fetal blood in Down syndrome.
Marderstein AR, De Zuani M, Moeller R, Bezney J, Padhi EM, Wong S, Coorens THH, Xie Y, Xue H, Montgomery SB, Cvejic A. Marderstein AR, et al. Among authors: padhi em. Nature. 2024 Oct;634(8032):104-112. doi: 10.1038/s41586-024-07946-4. Epub 2024 Sep 25. Nature. 2024. PMID: 39322663 Free PMC article.
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