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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: partridge ec. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Epitope Tagging ChIP-Seq of DNA Binding Proteins Using CETCh-Seq.
Meadows SK, Brandsmeier LA, Newberry KM, Betti MJ, Nesmith AS, Mackiewicz M, Partridge EC, Mendenhall EM, Myers RM. Meadows SK, et al. Among authors: partridge ec. Methods Mol Biol. 2020;2117:3-34. doi: 10.1007/978-1-0716-0301-7_1. Methods Mol Biol. 2020. PMID: 31960370
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Ramaker RC, Rogers BB, Partridge EC, Boston LB, Williams M, Plott CB, Jenkins J, Gray DE, Holt JM, Bowling KM, Bebin EM, Grimwood J, Schmutz J, Cooper GM. Hiatt SM, et al. Among authors: partridge ec. HGG Adv. 2021 Apr 8;2(2):100023. doi: 10.1016/j.xhgg.2021.100023. Epub 2021 Jan 16. HGG Adv. 2021. PMID: 33937879 Free PMC article.
CETCh-seq: CRISPR epitope tagging ChIP-seq of DNA-binding proteins.
Savic D, Partridge EC, Newberry KM, Smith SB, Meadows SK, Roberts BS, Mackiewicz M, Mendenhall EM, Myers RM. Savic D, et al. Among authors: partridge ec. Genome Res. 2015 Oct;25(10):1581-9. doi: 10.1101/gr.193540.115. Epub 2015 Sep 9. Genome Res. 2015. PMID: 26355004 Free PMC article.
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Bowling KM, Thompson ML, Gray DE, Lawlor JMJ, Williams K, East KM, Kelley WV, Moss IP, Absher DM, Partridge EC, Hurst ACE, Edberg JC, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: partridge ec. Genet Med. 2021 Feb;23(2):280-288. doi: 10.1038/s41436-020-00976-z. Epub 2020 Sep 29. Genet Med. 2021. PMID: 32989269 Free article.
Occupancy maps of 208 chromatin-associated proteins in one human cell type.
Partridge EC, Chhetri SB, Prokop JW, Ramaker RC, Jansen CS, Goh ST, Mackiewicz M, Newberry KM, Brandsmeier LA, Meadows SK, Messer CL, Hardigan AA, Coppola CJ, Dean EC, Jiang S, Savic D, Mortazavi A, Wold BJ, Myers RM, Mendenhall EM. Partridge EC, et al. Nature. 2020 Jul;583(7818):720-728. doi: 10.1038/s41586-020-2023-4. Epub 2020 Jul 29. Nature. 2020. PMID: 32728244 Free PMC article.
26 results