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Page 1
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: weiss wa. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0. NPJ Genom Med. 2023. PMID: 37236975 Free PMC article.
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. NPJ Genom Med. 2023 Oct 23;8(1):34. doi: 10.1038/s41525-023-00382-9. NPJ Genom Med. 2023. PMID: 37872195 Free PMC article. No abstract available.
MYC phase separation selectively modulates the transcriptome.
Yang J, Chung CI, Koach J, Liu H, Navalkar A, He H, Ma Z, Zhao Q, Yang X, He L, Mittag T, Shen Y, Weiss WA, Shu X. Yang J, et al. Among authors: weiss wa. Nat Struct Mol Biol. 2024 May 29. doi: 10.1038/s41594-024-01322-6. Online ahead of print. Nat Struct Mol Biol. 2024. PMID: 38811792
ALK upregulates POSTN and WNT signaling to drive neuroblastoma.
Huang M, Fang W, Farrel A, Li L, Chronopoulos A, Nasholm N, Cheng B, Zheng T, Yoda H, Barata MJ, Porras T, Miller ML, Zhen Q, Ghiglieri L, McHenry L, Wang L, Asgharzadeh S, Park J, Gustafson WC, Matthay KK, Maris JM, Weiss WA. Huang M, et al. Among authors: weiss wa. Cell Rep. 2024 Mar 26;43(3):113927. doi: 10.1016/j.celrep.2024.113927. Epub 2024 Mar 6. Cell Rep. 2024. PMID: 38451815 Free PMC article.
The USP46 complex deubiquitylates LRP6 to promote Wnt/β-catenin signaling.
Ng VH, Spencer Z, Neitzel LR, Nayak A, Loberg MA, Shen C, Kassel SN, Kroh HK, An Z, Anthony CC, Bryant JM, Lawson A, Goldsmith L, Benchabane H, Hansen AG, Li J, D'Souza S, Lebensohn AM, Rohatgi R, Weiss WA, Weiss VL, Williams C, Hong CC, Robbins DJ, Ahmed Y, Lee E. Ng VH, et al. Among authors: weiss wa. Nat Commun. 2023 Oct 5;14(1):6173. doi: 10.1038/s41467-023-41836-z. Nat Commun. 2023. PMID: 37798301 Free PMC article.
Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability.
Luo Z, Xin D, Liao Y, Berry K, Ogurek S, Zhang F, Zhang L, Zhao C, Rao R, Dong X, Li H, Yu J, Lin Y, Huang G, Xu L, Xin M, Nishinakamura R, Yu J, Kool M, Pfister SM, Roussel MF, Zhou W, Weiss WA, Andreassen P, Lu QR. Luo Z, et al. Among authors: weiss wa. Nat Commun. 2023 Feb 10;14(1):762. doi: 10.1038/s41467-023-36400-8. Nat Commun. 2023. PMID: 36765089 Free PMC article.
226 results