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Page 1
The human inactive X chromosome modulates expression of the active X chromosome.
San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Cell Genom. 2023 Feb 8;3(2):100259. doi: 10.1016/j.xgen.2023.100259. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819663 Free PMC article.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Cell Genom. 2024 Jan 10;4(1):100462. doi: 10.1016/j.xgen.2023.100462. Epub 2023 Dec 13. Cell Genom. 2024. PMID: 38190107 Free PMC article.
Cardiometabolic health in Turner syndrome.
Davis SM, Geffner ME. Davis SM, et al. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):52-58. doi: 10.1002/ajmg.c.31678. Epub 2019 Feb 18. Am J Med Genet C Semin Med Genet. 2019. PMID: 30775849 Free PMC article. Review.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. bioRxiv [Preprint]. 2023 Jun 7:2023.06.05.543763. doi: 10.1101/2023.06.05.543763. bioRxiv. 2023. Update in: Cell Genom. 2024 Jan 10;4(1):100462. doi: 10.1016/j.xgen.2023.100462 PMID: 37333288 Free PMC article. Updated. Preprint.
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.
Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J. Tartaglia N, et al. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):428-443. doi: 10.1002/ajmg.c.31807. Epub 2020 Jun 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32506668 Free PMC article. Review.
Hepatic abnormalities in youth with Turner syndrome.
Singh I, Noel G, Barker JM, Chatfield KC, Furniss A, Khanna AD, Nokoff NJ, Patel S, Pyle L, Nahata L, Cole FS, Ikomi C, Bamba V, Fechner PY, Davis SM. Singh I, et al. Liver Int. 2022 Oct;42(10):2237-2246. doi: 10.1111/liv.15358. Epub 2022 Jul 16. Liver Int. 2022. PMID: 35785515 Free PMC article.
Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
45 results