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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Nadimpalli Kobren S, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Willett J, Berselli M, Ronchetti W, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Nadimpalli Kobren S, et al. Among authors: ronchetti w. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580158. doi: 10.1101/2024.02.13.580158. bioRxiv. 2024. PMID: 38405764 Free PMC article. Preprint.
Author Correction: The 4D Nucleome Data Portal as a resource for searching and visualizing curated nucleomics data.
Reiff SB, Schroeder AJ, Kırlı K, Cosolo A, Bakker C, Mercado L, Lee S, Veit AD, Balashov AK, Vitzthum C, Ronchetti W, Pitman KM, Johnson J, Ehmsen SR, Kerpedjiev P, Abdennur N, Imakaev M, Öztürk SU, Çamoğlu U, Mirny LA, Gehlenborg N, Alver BH, Park PJ. Reiff SB, et al. Among authors: ronchetti w. Nat Commun. 2022 Nov 2;13(1):6561. doi: 10.1038/s41467-022-34458-4. Nat Commun. 2022. PMID: 36323678 Free PMC article. No abstract available.
The 4D Nucleome Data Portal as a resource for searching and visualizing curated nucleomics data.
Reiff SB, Schroeder AJ, Kırlı K, Cosolo A, Bakker C, Mercado L, Lee S, Veit AD, Balashov AK, Vitzthum C, Ronchetti W, Pitman KM, Johnson J, Ehmsen SR, Kerpedjiev P, Abdennur N, Imakaev M, Öztürk SU, Çamoğlu U, Mirny LA, Gehlenborg N, Alver BH, Park PJ. Reiff SB, et al. Among authors: ronchetti w. Nat Commun. 2022 May 2;13(1):2365. doi: 10.1038/s41467-022-29697-4. Nat Commun. 2022. PMID: 35501320 Free PMC article.