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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ; University of Washington Center for Mendelian Genomics; van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L. Tracewska-Siemiątkowska A, et al. Among authors: cremers fpm. Genes (Basel). 2017 Dec 11;8(12):381. doi: 10.3390/genes8120381. Genes (Basel). 2017. PMID: 29232904 Free PMC article.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Among authors: cremers fpm. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.
NR2F1 mutations cause optic atrophy with intellectual disability.
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics; Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. Bosch DG, et al. Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462372 Free PMC article.
The molecular basis of retinal dystrophies in pakistan.
Khan MI, Azam M, Ajmal M, Collin RW, den Hollander AI, Cremers FP, Qamar R. Khan MI, et al. Genes (Basel). 2014 Mar 11;5(1):176-95. doi: 10.3390/genes5010176. Genes (Basel). 2014. PMID: 24705292 Free PMC article.
Chromosomal aberrations in cerebral visual impairment.
Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, de Vries BB. Bosch DG, et al. Eur J Paediatr Neurol. 2014 Nov;18(6):677-84. doi: 10.1016/j.ejpn.2014.05.002. Epub 2014 May 22. Eur J Paediatr Neurol. 2014. PMID: 24912731
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, den Hollander AI, Haer-Wigman L, Collin RW, Khan MI, Qamar R, Cremers FP. Maria M, et al. PLoS One. 2015 Mar 16;10(3):e0119806. doi: 10.1371/journal.pone.0119806. eCollection 2015. PLoS One. 2015. PMID: 25775262 Free PMC article.
386 results