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GREGoR: Accelerating Genomics for Rare Diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Gibbs RA, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, Members GP, Carvalho CMB, Gifford CA, May S, Miller DE, Rehm HL, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Diseases GRTETGOR, Consortium. Dawood M, et al. Among authors: berger s. ArXiv [Preprint]. 2024 Dec 18:arXiv:2412.14338v1. ArXiv. 2024. PMID: 39764392 Free PMC article. Preprint.
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Stenton SL, Laricchia K, Lake NJ, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O'Heir E, Austin-Tse C, O'Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann CG, Bujakowska KM, Campagna DR, Compton AG, Donkervoort S, Fleming MD, Gallacher L, Gleeson JG, Haliloglu G, Pierce EA, Place EM, Sankaran VG, Shimamura A, Stark Z, Yang Tan T, Thorburn DR, White SM; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Vilain E, Lek M, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: berger s. medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. medRxiv. 2024. PMID: 39763565 Free PMC article. Preprint.
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease.
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM; UCI-GREGoR Consortium; Xiao C, Délot EC, Berger SI, Vilain E. Pitsava G, et al. Among authors: berger si. medRxiv [Preprint]. 2024 Dec 26:2024.12.21.24318325. doi: 10.1101/2024.12.21.24318325. medRxiv. 2024. PMID: 39763557 Free PMC article. Preprint.
Nuclear speckles regulate functional programs in cancer.
Alexander KA, Yu R, Skuli N, Coffey NJ, Nguyen S, Faunce CL, Huang H, Dardani IP, Good AL, Lim J, Li CY, Biddle N, Joyce EF, Raj A, Lee D, Keith B, Simon MC, Berger SL. Alexander KA, et al. Among authors: berger sl. Nat Cell Biol. 2025 Jan 2. doi: 10.1038/s41556-024-01570-0. Online ahead of print. Nat Cell Biol. 2025. PMID: 39747580
Genome-wide meta-analysis associates donor-recipient non-HLA genetic mismatch with acute cellular rejection post-liver transplantation.
Nieuwenhuis LM, Li Y, Loza BL, Lambeck AJA, Hu S, Gacesa R, Voskuil MD, Hepkema BG, Jansen BH, Blokzijl H, Verkade HJ, van den Heuvel MC, Asrani S, Testa G, Klintmalm G, Trotter J, Olthoff KM, Shaked A, Keating BJ, Weersma RK, Festen EAM, de Meijer VE; TransplantLines Investigators. Nieuwenhuis LM, et al. Hepatol Commun. 2024 Dec 11;9(1):e0601. doi: 10.1097/HC9.0000000000000601. eCollection 2025 Jan 1. Hepatol Commun. 2024. PMID: 39670865 Free PMC article.
2,733 results