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Year Number of Results
1969 8
1970 2
1971 2
1972 1
1986 1
1988 2
1989 1
1991 1
1992 5
1993 5
1994 1
1996 1
1998 3
1999 2
2000 3
2001 2
2002 1
2003 2
2005 2
2006 2
2007 2
2008 2
2009 1
2010 1
2011 1
2012 2
2013 1
2014 1
2015 2
2016 4
2017 4
2018 10
2019 7
2020 5
2021 7
2022 6
2023 4
2024 5
2025 1

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101 results

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Page 1
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.
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 rise of West Nile fever in Israel, June 2024.
Mor Z, Omari H, Indenbaum V, Kirstein OD, Shatach Catabi O, Reicher S, Lustig Y, Davidovich-Cohen M, Kaliner E, Sheffer R, Elbaz S, Kriger O, Alroy-Preis S. Mor Z, et al. Among authors: sheffer r. Euro Surveill. 2024 Jul;29(30):2400457. doi: 10.2807/1560-7917.ES.2024.29.30.2400457. Euro Surveill. 2024. PMID: 39056196 Free PMC article.
Mother-to-child HIV transmissions in Israel, 1985-2011.
Mor Z, Sheffer R, Chemtob D. Mor Z, et al. Among authors: sheffer r. Epidemiol Infect. 2017 Jul;145(9):1913-1921. doi: 10.1017/S0950268817000577. Epub 2017 Apr 4. Epidemiol Infect. 2017. PMID: 28374653 Free PMC article.
Hepatitis A virus transmission in a dental clinic setting.
Vinograd A, Ben-David D, Gozlan Y, Mor O, Mor Z, Sheffer R, Savion M. Vinograd A, et al. Among authors: sheffer r. Infect Control Hosp Epidemiol. 2023 Apr;44(4):692-693. doi: 10.1017/ice.2023.16. Epub 2023 Feb 15. Infect Control Hosp Epidemiol. 2023. PMID: 36789643 No abstract available.
Morbidity among Israeli backpack travelers to tropical areas.
Kaplan S, Khoury S, Zaidenstein R, Cohen E, Tischler-Aurkin D, Sheffer R, Lewis M, Mor Z. Kaplan S, et al. Among authors: sheffer r. Travel Med Infect Dis. 2022 Jan-Feb;45:102178. doi: 10.1016/j.tmaid.2021.102178. Epub 2021 Oct 21. Travel Med Infect Dis. 2022. PMID: 34687872
Hepatitis C Virus Elimination Program among Prison Inmates, Israel.
Eisen L, Mor Z, Madar M, Rabinovitch R, Dadon Y, Sheffer R, Kaliner E, Goldstein L. Eisen L, et al. Among authors: sheffer r. Emerg Infect Dis. 2023 Nov;29(11):2358-2361. doi: 10.3201/eid2911.230728. Emerg Infect Dis. 2023. PMID: 37877627 Free PMC article.
Monkeypox outbreak in the Tel Aviv District, Israel, 2022.
Sheffer R, Savion M, Nuss N, Amitai Z, Salama M. Sheffer R, et al. Int J Infect Dis. 2023 Mar;128:88-90. doi: 10.1016/j.ijid.2022.12.023. Epub 2022 Dec 22. Int J Infect Dis. 2023. PMID: 36566775 Free PMC article.
MRI of mannosidosis.
Patlas M, Shapira MY, Nagler A, Sheffer R, Gomori JM. Patlas M, et al. Among authors: sheffer r. Neuroradiology. 2001 Nov;43(11):941-3. doi: 10.1007/s002340100607. Neuroradiology. 2001. PMID: 11760797
A Measles Outbreak in the Tel Aviv District, Israel, 2018-2019.
Salama M, Indenbaum V, Nuss N, Savion M, Mor Z, Amitai Z, Yoabob I, Sheffer R. Salama M, et al. Among authors: sheffer r. Clin Infect Dis. 2021 May 4;72(9):1649-1656. doi: 10.1093/cid/ciaa931. Clin Infect Dis. 2021. PMID: 32619227
101 results