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14 results

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Page 1
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Weisz-Hubshman M, Burrage LC, Jangam SV, Rosenfeld JA, von Hardenberg S, Bergmann A, Richter MF, Rydzanicz M, Ploski R, Stembalska A, Chung WK, Hernan RR, Lim FY, Brunet T, Syrbe S, Keren B, Heide S, Murdock DR, Dai H, Xia F, Ketkar S, Dawson B, Narayanan V, Graves HK; Undiagnosed Diseases Network; Wangler MF, Bacino C, Lee B. Weisz-Hubshman M, et al. Among authors: graves hk. Genet Med. 2025 Apr;27(4):101369. doi: 10.1016/j.gim.2025.101369. Epub 2025 Jan 28. Genet Med. 2025. PMID: 39891528 Free PMC article.
Mitotic phosphorylation of histone H3 threonine 80.
Hammond SL, Byrum SD, Namjoshi S, Graves HK, Dennehey BK, Tackett AJ, Tyler JK. Hammond SL, et al. Among authors: graves hk. Cell Cycle. 2014;13(3):440-52. doi: 10.4161/cc.27269. Epub 2013 Nov 25. Cell Cycle. 2014. PMID: 24275038 Free PMC article.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Marcogliese PC, et al. Among authors: graves hk. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517. Cell Rep. 2022. PMID: 35294868 Free PMC article.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
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; Bellen HJ, Wangler MF, Shashi V, Yamamoto S. Luo X, et al. Among authors: graves hk. Hum Mol Genet. 2021 Jun 26;30(14):1283-1292. doi: 10.1093/hmg/ddab110. Hum Mol Genet. 2021. PMID: 33864376 Free PMC article.
14 results