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Page 1
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: banfi s. 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.
Development of a genotyping microarray for Usher syndrome.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. Among authors: banfi s. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 Free PMC article.
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI. Bandah-Rozenfeld D, et al. Among authors: banfi s. Am J Hum Genet. 2010 Aug 13;87(2):199-208. doi: 10.1016/j.ajhg.2010.07.004. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673862 Free PMC article.
miR-204 is required for lens and retinal development via Meis2 targeting.
Conte I, Carrella S, Avellino R, Karali M, Marco-Ferreres R, Bovolenta P, Banfi S. Conte I, et al. Among authors: banfi s. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15491-6. doi: 10.1073/pnas.0914785107. Epub 2010 Aug 16. Proc Natl Acad Sci U S A. 2010. PMID: 20713703 Free PMC article.
miRNeye: a microRNA expression atlas of the mouse eye.
Karali M, Peluso I, Gennarino VA, Bilio M, Verde R, Lago G, Dollé P, Banfi S. Karali M, et al. Among authors: banfi s. BMC Genomics. 2010 Dec 20;11:715. doi: 10.1186/1471-2164-11-715. BMC Genomics. 2010. PMID: 21171988 Free PMC article.
MicroRNA-restricted transgene expression in the retina.
Karali M, Manfredi A, Puppo A, Marrocco E, Gargiulo A, Allocca M, Corte MD, Rossi S, Giunti M, Bacci ML, Simonelli F, Surace EM, Banfi S, Auricchio A. Karali M, et al. Among authors: banfi s. PLoS One. 2011;6(7):e22166. doi: 10.1371/journal.pone.0022166. Epub 2011 Jul 26. PLoS One. 2011. PMID: 21818300 Free PMC article.
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium; Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Ozgül RK, et al. Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005. Am J Hum Genet. 2011. PMID: 21835304 Free PMC article.
260 results