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Page 1
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Wilderman A, D'haene E, Baetens M, Yankee TN, Winchester EW, Glidden N, Roets E, Van Dorpe J, Janssens S, Miller DE, Galey M, Brown KM, Stottmann RW, Vergult S, Weaver KN, Brugmann SA, Cox TC, Cotney J. Wilderman A, et al. Among authors: miller de. Nat Commun. 2024 Jan 2;15(1):136. doi: 10.1038/s41467-023-44506-2. Nat Commun. 2024. PMID: 38167838 Free PMC article.
Global discovery of lupus genetic risk variant allelic enhancer activity.
Lu X, Chen X, Forney C, Donmez O, Miller D, Parameswaran S, Hong T, Huang Y, Pujato M, Cazares T, Miraldi ER, Ray JP, de Boer CG, Harley JB, Weirauch MT, Kottyan LC. Lu X, et al. Among authors: miller d, de boer cg. Nat Commun. 2021 Mar 12;12(1):1611. doi: 10.1038/s41467-021-21854-5. Nat Commun. 2021. PMID: 33712590 Free PMC article.
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.
Liu X, Helenius D, Skotte L, Beaumont RN, Wielscher M, Geller F, Juodakis J, Mahajan A, Bradfield JP, Lin FTJ, Vogelezang S, Bustamante M, Ahluwalia TS, Pitkänen N, Wang CA, Bacelis J, Borges MC, Zhang G, Bedell BA, Rossi RM, Skogstrand K, Peng S, Thompson WK, Appadurai V, Lawlor DA, Kalliala I, Power C, McCarthy MI, Boyd HA, Marazita ML, Hakonarson H, Hayes MG, Scholtens DM, Rivadeneira F, Jaddoe VWV, Vinding RK, Bisgaard H, Knight BA, Pahkala K, Raitakari O, Helgeland Ø, Johansson S, Njølstad PR, Fadista J, Schork AJ, Nudel R, Miller DE, Chen X, Weirauch MT, Mortensen PB, Børglum AD, Nordentoft M, Mors O, Hao K, Ryckman KK, Hougaard DM, Kottyan LC, Pennell CE, Lyytikainen LP, Bønnelykke K, Vrijheid M, Felix JF, Lowe WL Jr, Grant SFA, Hyppönen E, Jacobsson B, Jarvelin MR, Muglia LJ, Murray JC, Freathy RM, Werge TM, Melbye M, Buil A, Feenstra B. Liu X, et al. Among authors: miller de. Nat Commun. 2019 Sep 2;10(1):3927. doi: 10.1038/s41467-019-11881-8. Nat Commun. 2019. PMID: 31477735 Free PMC article.
Genetic, Inflammatory, and Epithelial Cell Differentiation Factors Control Expression of Human Calpain-14.
Miller DE, Forney C, Rochman M, Cranert S, Habel J, Rymer J, Lynch A, Schroeder C, Lee J, Sauder A, Smith Q, Chawla M, Trimarchi MP, Lu X, Fjellman E, Brusilovsky M, Barski A, Waggoner S, Weirauch MT, Rothenberg ME, Kottyan LC. Miller DE, et al. G3 (Bethesda). 2019 Mar 7;9(3):729-736. doi: 10.1534/g3.118.200901. G3 (Bethesda). 2019. PMID: 30626591 Free PMC article.
Epigenetic and transcriptional dysregulation in CD4+ T cells in patients with atopic dermatitis.
Eapen AA, Parameswaran S, Forney C, Edsall LE, Miller D, Donmez O, Dunn K, Lu X, Granitto M, Rowden H, Magier AZ, Pujato M, Chen X, Kaufman K, Bernstein DI, Devonshire AL, Rothenberg ME, Weirauch MT, Kottyan LC. Eapen AA, et al. PLoS Genet. 2022 May 16;18(5):e1009973. doi: 10.1371/journal.pgen.1009973. eCollection 2022 May. PLoS Genet. 2022. PMID: 35576187 Free PMC article.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: miller de. Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print. Am J Hum Genet. 2024. PMID: 38749428 No abstract available.
220 results