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CEBPA repression by MECOM blocks differentiation to drive aggressive leukemias.
Fleming TJ, Antoszewski M, Lambo S, Gundry MC, Piussi R, Wahlster L, Shah S, Reed FE, Dong KD, Paulo JA, Gygi SP, Mimoso C, Goldman SR, Adelman K, Perry JA, Pikman Y, Stegmaier K, Barrachina MN, Machlus KR, Hovestadt V, Arruda A, Minden MD, Voit RA, Sankaran VG. Fleming TJ, et al. bioRxiv [Preprint]. 2024 Dec 30:2024.12.30.630680. doi: 10.1101/2024.12.30.630680. bioRxiv. 2024. PMID: 39803492 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, Tan TY, 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. medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. medRxiv. 2024. PMID: 39763565 Free PMC article. Preprint.