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Page 1
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: bellet js. Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. Am J Hum Genet. 2017. PMID: 28061364 Free PMC article. No abstract available.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: bellet js. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
Intertriginous pustular psoriasis.
Bellet JS, Chamlin SL, Yan AC, Paller AS. Bellet JS, et al. J Am Acad Dermatol. 2009 Apr;60(4):679-83. doi: 10.1016/j.jaad.2008.12.019. J Am Acad Dermatol. 2009. PMID: 19178983
Rapidly Growing Congenital Groin Mass.
Jewell JR, Ellington KS, Bellet JS. Jewell JR, et al. Among authors: bellet js. Pediatr Dermatol. 2017 May;34(3):367-368. doi: 10.1111/pde.13125. Pediatr Dermatol. 2017. PMID: 28523886 No abstract available.
Yellow-Orange Penile Papules.
Masoud M, Routh JC, Bellet JS. Masoud M, et al. Among authors: bellet js. Pediatr Dermatol. 2017 Sep;34(5):603-604. doi: 10.1111/pde.13186. Pediatr Dermatol. 2017. PMID: 28884899 No abstract available.
Familial eruptive vellus hair cysts.
Rodgers SA, Kitagawa K, Selim MA, Bellet JS. Rodgers SA, et al. Among authors: bellet js. Pediatr Dermatol. 2012 May-Jun;29(3):367-9. doi: 10.1111/j.1525-1470.2011.01411.x. Epub 2011 Dec 9. Pediatr Dermatol. 2012. PMID: 22150961
31 results