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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D; DDD Study; Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Pierson TM, Balasubramanian M. Schirwani S, et al. Among authors: slavotinek a. Am J Med Genet A. 2021 Nov;185(11):3446-3458. doi: 10.1002/ajmg.a.62465. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34436830 Free article.
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
Clinical features and management issues in Mowat-Wilson syndrome.
Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Adam MP, et al. Among authors: slavotinek a. Am J Med Genet A. 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530. Am J Med Genet A. 2006. PMID: 17103451
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Nathanson J, et al. Among authors: slavotinek a. Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401257 Free PMC article.
298 results