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Page 1
Semidominant inheritance in epidermolytic ichthyosis.
Nousbeck J, Padalon-Brauch G, Fuchs-Telem D, Israeli S, Sarig O, Sheffer R, Sprecher E. Nousbeck J, et al. Among authors: sheffer r. J Invest Dermatol. 2013 Nov;133(11):2626-2628. doi: 10.1038/jid.2013.193. Epub 2013 Apr 19. J Invest Dermatol. 2013. PMID: 23604102 Free article. No abstract available.
Behr's syndrome and 3-methylglutaconic aciduria.
Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D. Sheffer RN, et al. Am J Ophthalmol. 1992 Oct 15;114(4):494-7. doi: 10.1016/s0002-9394(14)71864-1. Am J Ophthalmol. 1992. PMID: 1384336
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K. Yigit G, et al. Among authors: sheffer r. J Med Genet. 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25. J Med Genet. 2022. PMID: 34172529 Free PMC article.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Boschann F, Heinen A, Schallner J, Mignot C, Keren B, Whalen S, Sarret C, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM. Tan NB, et al. Among authors: sheffer r. J Med Genet. 2022 May;59(5):511-516. doi: 10.1136/jmedgenet-2020-107462. Epub 2021 Jun 28. J Med Genet. 2022. PMID: 34183358
Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Ramot Y, Sayama K, Sheffer R, Doviner V, Hiller N, Kaufmann-Yehezkely M, Zlotogorski A. Ramot Y, et al. Among authors: sheffer r. Int J Pediatr Otorhinolaryngol. 2010 Jul;74(7):825-7. doi: 10.1016/j.ijporl.2010.03.053. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20399510
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: sheffer r. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
102 results