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Year Number of Results
2014 1
2015 1
2017 1
2018 1
2019 2
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2021 3
2022 3
2023 1
2024 3
2025 7

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24 results

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Page 1
Predicting expression-altering promoter mutations with deep learning.
Jaganathan K, Ersaro N, Novakovsky G, Wang Y, James T, Schwartzentruber J, Fiziev P, Kassam I, Cao F, Hawe J, Cavanagh H, Lim A, Png G, McRae J, Banerjee A, Kumar A, Ulirsch J, Zhang Y, Aguet F, Wainschtein P, Sundaram L, Salcedo A, Panagiotopoulou SK, Aghamirzaie D, Padhi E, Weng Z, Dong S, Smedley D, Caulfield M, O'Donnell-Luria A, Rehm HL, Sanders SJ, Kundaje A, Montgomery SB, Ross MT, Farh KK. Jaganathan K, et al. Among authors: padhi e. Science. 2025 Aug 7;389(6760):eads7373. doi: 10.1126/science.ads7373. Epub 2025 Aug 7. Science. 2025. PMID: 40440429
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
The Somatic Mosaicism across Human Tissues Network.
Coorens THH, Oh JW, Choi YA, Lim NS, Zhao B, Voshall A, Abyzov A, Antonacci-Fulton L, Aparicio S, Ardlie KG, Bell TJ, Bennett JT, Bernstein BE, Blanchard TG, Boyle AP, Buenrostro JD, Burns KH, Chen F, Chen R, Choudhury S, Doddapaneni HV, Eichler EE, Evrony GD, Faith MA, Fazzio TG, Fulton RS, Garber M, Gehlenborg N, Germer S, Getz G, Gibbs RA, Hernandez RG, Jin F, Korbel JO, Landau DA, Lawson HA, Lennon NJ, Li H, Li Y, Loh PR, Marth G, McConnell MJ, Mills RE, Montgomery SB, Natarajan P, Park PJ, Satija R, Sedlazeck FJ, Shao DD, Shen H, Stergachis AB, Underhill HR, Urban AE, VonDran MW, Walsh CA, Wang T, Wu TP, Zong C, Lee EA, Vaccarino FM; Somatic Mosaicism across Human Tissues Network. Coorens THH, et al. Nature. 2025 Jul;643(8070):47-59. doi: 10.1038/s41586-025-09096-7. Epub 2025 Jul 2. Nature. 2025. PMID: 40604182 Review.
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.
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 Free PMC article. Review.
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Arriaga TM, 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 Diseases Network; Genomics Research to Elucidate the Genetics of Rare Diseases consortium; Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS. Arriaga TM, et al. Among authors: padhi em. Am J Hum Genet. 2025 Oct 2;112(10):2458-2475. doi: 10.1016/j.ajhg.2025.08.018. Epub 2025 Sep 19. Am J Hum Genet. 2025. PMID: 40975062
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. Update in: Am J Hum Genet. 2025 Oct 2;112(10):2458-2475. doi: 10.1016/j.ajhg.2025.08.018. PMID: 39802771 Free PMC article. Updated. Preprint.
24 results