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1998 1
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PubMed for id: 4885649

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Page 1
Genome sequencing in families with congenital limb malformations.
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M. Elsner J, et al. Hum Genet. 2021 Aug;140(8):1229-1239. doi: 10.1007/s00439-021-02295-y. Epub 2021 Jun 22. Hum Genet. 2021. PMID: 34159400 Free PMC article.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-García GA, Campo-Neira KA, Peñaloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB. Schnur RE, et al. Genet Med. 2021 Sep;23(9):1624-1635. doi: 10.1038/s41436-021-01182-1. Epub 2021 May 26. Genet Med. 2021. PMID: 34040189 Free PMC article.
Targeting SUMOylation dependency in human cancer stem cells through a unique SAE2 motif revealed by chemical genomics.
Benoit YD, Mitchell RR, Wang W, Orlando L, Boyd AL, Tanasijevic B, Aslostovar L, Shapovalova Z, Doyle M, Bergin CJ, Vojnits K, Casado FL, Di Lu J, Porras DP, García-Rodriguez JL, Russell J, Zouggar A, Masibag AN, Caba C, Koteva K, Kinthada LK, Patel JS, Andres SN, Magolan J, Collins TJ, Wright GD, Bhatia M. Benoit YD, et al. Cell Chem Biol. 2021 Oct 21;28(10):1394-1406.e10. doi: 10.1016/j.chembiol.2021.04.014. Epub 2021 May 11. Cell Chem Biol. 2021. PMID: 33979648 Free PMC article.