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2019 1
2021 1
2022 9
2023 8
2024 7

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26 results

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Page 1
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Autolysosomal exocytosis of lipids protect neurons from ferroptosis.
Ralhan I, Chang J, Moulton MJ, Goodman LD, Lee NYJ, Plummer G, Pasolli HA, Matthies D, Bellen HJ, Ioannou MS. Ralhan I, et al. J Cell Biol. 2023 Jun 5;222(6):e202207130. doi: 10.1083/jcb.202207130. Epub 2023 Apr 10. J Cell Biol. 2023. PMID: 37036445 Free PMC article.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
Promoting validation and cross-phylogenetic integration in model organism research.
Cheng KC, Burdine RD, Dickinson ME, Ekker SC, Lin AY, Lloyd KCK, Lutz CM, MacRae CA, Morrison JH, O'Connor DH, Postlethwait JH, Rogers CD, Sanchez S, Simpson JH, Talbot WS, Wallace DC, Weimer JM, Bellen HJ. Cheng KC, et al. Dis Model Mech. 2022 Sep 1;15(9):dmm049600. doi: 10.1242/dmm.049600. Epub 2022 Sep 20. Dis Model Mech. 2022. PMID: 36125045 Free PMC article.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJ. Lu S, et al. Am J Hum Genet. 2022 Oct 6;109(10):1932-1943. doi: 10.1016/j.ajhg.2022.09.005. Am J Hum Genet. 2022. PMID: 36206744 Free PMC article.
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.
Guichard A, Lu S, Kanca O, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay KL, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, Lin WW, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S, Bellen HJ, Bier E. Guichard A, et al. Cell Rep. 2023 Aug 29;42(8):112842. doi: 10.1016/j.celrep.2023.112842. Epub 2023 Jul 20. Cell Rep. 2023. PMID: 37480566 Free PMC article.
26 results