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Page 1
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. Among authors: bellet j. 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.
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.
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.
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. Pediatr Dermatol. 2017 May;34(3):367-368. doi: 10.1111/pde.13125. Pediatr Dermatol. 2017. PMID: 28523886 No abstract available.
Familial eruptive vellus hair cysts.
Rodgers SA, Kitagawa K, Selim MA, Bellet JS. Rodgers SA, et al. 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
Yellow-Orange Penile Papules.
Masoud M, Routh JC, Bellet JS. Masoud M, et al. Pediatr Dermatol. 2017 Sep;34(5):603-604. doi: 10.1111/pde.13186. Pediatr Dermatol. 2017. PMID: 28884899 No abstract available.
Periocular infantile hemangioma masquerading as dacryocele.
Bonafede L, Go M, Cheng J, Belcastro AA, Bellet JS, Gabr H, Freedman SF, Velez FG. Bonafede L, et al. Among authors: bellet js. J AAPOS. 2020 Oct;24(5):326-328. doi: 10.1016/j.jaapos.2020.07.001. Epub 2020 Jul 18. J AAPOS. 2020. PMID: 32693170
71 results