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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. Buena-Atienza E, et al. Among authors: rose k. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. Sci Rep. 2016. PMID: 27339364 Free PMC article.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson LS, Bournazos A, Fennell A, Krzesinski EI, Tan K, Springer A, Rose K, Goranitis I, Francis D, Lee C, Faiz F, Davis MR, Christodoulou J, Lunke S, Stark Z, Hunter MF, Cooper ST. Akesson LS, et al. Among authors: rose k. Hum Mutat. 2020 Nov;41(11):1884-1891. doi: 10.1002/humu.24101. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906196
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C, Jagline H, Chelly J, Shaw M, Laumonnier F, Gecz J, Mandel JL, Piton A. Quartier A, et al. Among authors: rose k. Hum Mutat. 2019 Nov;40(11):2021-2032. doi: 10.1002/humu.23836. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31184401
Hypusination in intestinal epithelial cells protects mice from infectious colitis.
Gobert AP, Hawkins CV, Williams KJ, Snyder LA, Barry DP, Asim M, Allaman MM, McNamara KM, Delgado AG, Wang Y, Zhao S, Rose KL, Piazuelo MB, Wilson KT. Gobert AP, et al. Among authors: rose kl. Gut Microbes. 2024 Jan-Dec;16(1):2438828. doi: 10.1080/19490976.2024.2438828. Epub 2024 Dec 14. Gut Microbes. 2024. PMID: 39673545 Free PMC article.
New York State Climate Impacts Assessment Chapter 05: Ecosystems.
Hess SS, Burns DA, Boudinot FG, Brown-Lima C, Corwin J, Foppert JD, Robinson GR, Rose KC, Schlesinger MD, Shuford RL, Bradshaw D, Stevens A. Hess SS, et al. Among authors: rose kc. Ann N Y Acad Sci. 2024 Dec;1542(1):253-340. doi: 10.1111/nyas.15203. Epub 2024 Dec 9. Ann N Y Acad Sci. 2024. PMID: 39652386 Free PMC article.
Dyadic Comparison of Pain and Stress in Alzheimer's Disease and Caregivers.
Anderson AR, Souza-Talarico J, Mahajan I, Monroe TB, Tan A, Mackos AR, Ford JL, Wright KD, Gure T, Rose KM, Moss KO. Anderson AR, et al. Among authors: rose km. Pain Manag Nurs. 2024 Dec 3:S1524-9042(24)00274-1. doi: 10.1016/j.pmn.2024.10.010. Online ahead of print. Pain Manag Nurs. 2024. PMID: 39632151
1,797 results