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102 results

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Page 1
Haploinsufficiency for DNA methyltransferase 3A predisposes hematopoietic cells to myeloid malignancies.
Cole CB, Russler-Germain DA, Ketkar S, Verdoni AM, Smith AM, Bangert CV, Helton NM, Guo M, Klco JM, O'Laughlin S, Fronick C, Fulton R, Chang GS, Petti AA, Miller CA, Ley TJ. Cole CB, et al. Among authors: ketkar s. J Clin Invest. 2017 Oct 2;127(10):3657-3674. doi: 10.1172/JCI93041. Epub 2017 Sep 5. J Clin Invest. 2017. PMID: 28872462 Free PMC article.
CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression.
Spencer DH, Russler-Germain DA, Ketkar S, Helton NM, Lamprecht TL, Fulton RS, Fronick CC, O'Laughlin M, Heath SE, Shinawi M, Westervelt P, Payton JE, Wartman LD, Welch JS, Wilson RK, Walter MJ, Link DC, DiPersio JF, Ley TJ. Spencer DH, et al. Among authors: ketkar s. Cell. 2017 Feb 23;168(5):801-816.e13. doi: 10.1016/j.cell.2017.01.021. Epub 2017 Feb 16. Cell. 2017. PMID: 28215704 Free PMC article.
Remethylation of Dnmt3a-/- hematopoietic cells is associated with partial correction of gene dysregulation and reduced myeloid skewing.
Ketkar S, Verdoni AM, Smith AM, Bangert CV, Leight ER, Chen DY, Brune MK, Helton NM, Hoock M, George DR, Fronick C, Fulton RS, Ramakrishnan SM, Chang GS, Petti AA, Spencer DH, Miller CA, Ley TJ. Ketkar S, et al. Proc Natl Acad Sci U S A. 2020 Feb 11;117(6):3123-3134. doi: 10.1073/pnas.1918611117. Epub 2020 Jan 29. Proc Natl Acad Sci U S A. 2020. PMID: 31996479 Free PMC article.
Tumor suppressor function of WT1 in acute promyelocytic leukemia.
Christopher MJ, Katerndahl CDS, LeBlanc HR, Elmendorf TT, Basu V, Gang M, Menssen AJ, Spencer DH, Duncavage EJ, Ketkar S, Wartman LD, Ramakrishnan SM, Miller CA, Ley TJ. Christopher MJ, et al. Among authors: ketkar s. Haematologica. 2022 Jan 1;107(1):342-346. doi: 10.3324/haematol.2021.279601. Haematologica. 2022. PMID: 34670359 Free PMC article. No abstract available.
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Murdock DR, et al. Among authors: ketkar s. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500. J Clin Invest. 2021. PMID: 33001864 Free PMC article. Clinical Trial.
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, Kutalik Z, Luan J, Mägi R, Randall JC, Winkler TW, Wood AR, Workalemahu T, Faul JD, Smith JA, Zhao JH, Zhao W, Chen J, Fehrmann R, Hedman ÅK, Karjalainen J, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bolton JL, Bragg-Gresham JL, Buyske S, Demirkan A, Deng G, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Goel A, Gong J, Jackson AU, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Leach IM, Medina-Gomez C, Medland SE, Nalls MA, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Shungin D, Stančáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Isaacs A, Albrecht E, Ärnlöv J, Arscott GM, Attwood AP, Bandinelli S, Barrett A, Bas IN, Bellis C, Bennett AJ, Berne C, Blagieva R, Blüher M, Böhringer S, Bonnycastle LL, Böttcher Y, Boyd HA, Bruinenberg M, Caspersen IH, Chen YI, Clarke R, Daw EW, de Craen AJM, Delgado G, Dimitriou M, Doney ASF, Eklund N, Estrada K, Eury E, Folkersen L, Fraser RM, Garci… See abstract for full author list ➔ Locke AE, et al. Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177. Nature. 2015. PMID: 25673413 Free PMC article.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA; Undiagnosed Diseases Network; Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. Merriweather A, et al. Among authors: ketkar s. Am J Med Genet A. 2022 Jul;188(7):2198-2203. doi: 10.1002/ajmg.a.62747. Epub 2022 Apr 9. Am J Med Genet A. 2022. PMID: 35396900 Free PMC article.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
102 results