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De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T. Chung HL, et al. Among authors: bellen h. Hum Mol Genet. 2022 Sep 29;31(19):3231-3244. doi: 10.1093/hmg/ddac053. Hum Mol Genet. 2022. PMID: 35234901 Free PMC article.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. Yamamoto S, et al. Among authors: bellen hj. Cell. 2014 Sep 25;159(1):200-214. doi: 10.1016/j.cell.2014.09.002. Cell. 2014. PMID: 25259927 Free PMC article.
Fruit flies in biomedical research.
Wangler MF, Yamamoto S, Bellen HJ. Wangler MF, et al. Genetics. 2015 Mar;199(3):639-53. doi: 10.1534/genetics.114.171785. Epub 2015 Jan 26. Genetics. 2015. PMID: 25624315 Free PMC article.
418 results