Blindness Genetics - publications Susanne Roosing

Recent Publications Susanne Roosing

Fadaie, Z, Khan, M, del Pozo-Valero, M, Cornelis, S.S., Ayuso, C, ABCA4 Studygroup, Cremers, F.P.M., Roosing, S. Identification of splice defects due to non-canonical splice site or deep-intronic variants in ABCA4, Hum Mutat. 2019 Aug 9. In press

Verbakel, SK, Fadaie, Z, Klevering, BJ, van Genderen, MM, Feenstra, I, Cremers, FPM, Hoyng, CB, Roosing, S. The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy, Mol Genet Genomic Med. 2019 Apr 4:e660.

de Bruijn, SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S. Homozygous variants in gene KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. J Med Genet 2018;0:1–8.

Astuti, GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S, Identification of inherited retinal disease-associated genetic variants in 11 possible candidate genes, Genes (Basel). 2018 Jan 10;9(1).

Roosing S, Cremers FPM, Riemslag FCC, Zonneveld-Vrieling MN, Talsma H, Klessens-Godfroy FJM, den Hollander AI, van den Born LI A rare form of retinal dystrophy caused by hypomorphic nonsense mutations in CEP290, Genes (Basel). 2017 Aug 22;8(8).

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati M, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.  Elife. 2015 May 30;4. doi: 10.7554/eLife.06602.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FPM, den Hollander AI, Hoyng CB. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 2015 Jan;122(1):170-9.

Roosing S*, Lamers IJ*, de Vrieze E*, van den Born LI*, Lambertus S, Arts HH; POC1B Study Group, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E^#, Roepman R^#, den Hollander AI^#, Cremers FPM^#. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2014 Aug 7;95(2):131-42.

Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Prog Retin Eye Res. 2014 Sep;42:1-26.

For a list of all publications see PubMed