Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 2
1998 2
1999 1
2000 1
2001 2
2003 5
2004 1
2006 1
2007 3
2008 4
2009 5
2010 10
2011 4
2012 5
2013 2
2014 3
2015 5
2016 5
2017 3
2018 4
2019 6
2020 7
2021 5
2022 6
2023 6
2024 10

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

101 results

Results by year

Filters applied: . Clear all
Page 1
Reply.
Newman H, Perlman I, Pras E, Rozenberg A, Ben-Yosef T, Iovino C, Simonelli F, Di Iorio V, Rotenstreich Y, Katzburg E, Ehrenberg M, Iglicki M, Zur D. Newman H, et al. Among authors: ben yosef t. Retina. 2022 Oct 1;42(10):e49. doi: 10.1097/IAE.0000000000003564. Retina. 2022. PMID: 36129272 No abstract available.
Inherited Retinal Diseases.
Ben-Yosef T. Ben-Yosef T. Int J Mol Sci. 2022 Nov 3;23(21):13467. doi: 10.3390/ijms232113467. Int J Mol Sci. 2022. PMID: 36362249 Free PMC article.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: ben yosef t. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Among authors: ben yosef t. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: ben yosef t. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: ben yosef t. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: ben yosef t. Genet Med. 2024 Jun;26(6):101106. doi: 10.1016/j.gim.2024.101106. Epub 2024 Feb 28. Genet Med. 2024. PMID: 38420906 Free article.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Bauwens M, et al. Among authors: ben yosef t. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272031 Free PMC article.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: ben yosef t. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
101 results