7 publications found.
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Moulton MJ, Barish S, Ralhan I, Chang J, Goodman LD, Harland J, Marcogliese PC, Johansson JO, Ioannou M, Bellen HJ (2021). Neuronal ROS-Induced Glial Lipid Droplet Formation is Altered by Loss of Alzheimer's Disease-associated Genes. Proceedings of the National Academy of Sciences 118(52):e2112095118 Abstract
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Undiagnosed Disease Network (UDN), Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klockner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait J, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ (2021). Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in Medicine 23(10):1889-1900 Abstract
Bellen HJ, Hubbard EJA, Lehmann R, Madhani HD, Solnica-Krezel L, Sothard-Smith EM (2021). Model organism databases are in jeopardy. Development 148(19):dev200193 Article | Twitter
Park YJ, Kim S, Shim HP, Park JH, Lee G, Kim TY, Jo MC, Kwon AY, Lee M, Lee S, Yeo J, Chung HL, Bellen HJ, Kwon SH, Jeon SH (2021). Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function. iScience 24(8):102899 Abstract
Goodman LD, Cope H, Nil Z, Ravenscroft, TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Undiagnosed Diseases Network (UDN), Wangler MF, Yamamoto S, Bellen HJ#, Tan QKG# (2021). TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. The American Journal of Human Genetics 108(9):1669-1691 Abstract # co-corresponding authors
Baldridge D*, Wangler MF*, Bowman AN, Yamamoto S, Undiagnosed Diseases Network (UDN), Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M (2021). Model Organisms Contribute to Diagnosis and Discovery in the Undiagnosed Diseases Network: Current State and a Future Vision. Orphanet Journal of Rare Diseases 16(1):206 Abstract *co-first authors and co-corresponding authors
Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, keren B, Mignot C, Ravelli C, Undiagnosed Diseases Network (UDN), Bellen HJ, Wangler MF, Shashi V, Yamamoto S (2021). Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Human Molecular Genetics 30(14):1283-1292 Abstract