Fahiminiya S - Search Results

1

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.

Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J. Rivera B, et al. Among authors: fahiminiya s. Acta Neuropathol. 2016 Jun;131(6):847-63. doi: 10.1007/s00401-016-1549-x. Epub 2016 Feb 26. Acta Neuropathol. 2016. PMID: 26920151 Free PMC article.

2

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS. Kim JC, et al. Among authors: fahiminiya s. Mol Genet Metab. 2012 Dec;107(4):664-8. doi: 10.1016/j.ymgme.2012.10.005. Epub 2012 Oct 16. Mol Genet Metab. 2012. PMID: 23141461

3

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. Rauch F, et al. Among authors: fahiminiya s. J Med Genet. 2013 Jan;50(1):21-4. doi: 10.1136/jmedgenet-2012-101307. J Med Genet. 2013. PMID: 23240094

4

Mutations in WNT1 are a cause of osteogenesis imperfecta.

Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Fahiminiya S, et al. J Med Genet. 2013 May;50(5):345-8. doi: 10.1136/jmedgenet-2013-101567. Epub 2013 Feb 23. J Med Genet. 2013. PMID: 23434763

5

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

Fahiminiya S, Majewski J, Roughley P, Roschger P, Klaushofer K, Rauch F. Fahiminiya S, et al. Bone. 2013 Nov;57(1):41-6. doi: 10.1016/j.bone.2013.07.020. Epub 2013 Jul 23. Bone. 2013. PMID: 23886840

6

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.

Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F. Fahiminiya S, et al. J Bone Miner Res. 2014 Aug;29(8):1805-14. doi: 10.1002/jbmr.2208. J Bone Miner Res. 2014. PMID: 24616189 Free article.

7

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Witkowski L, et al. Among authors: fahiminiya s. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658002

8

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J. Gos M, et al. Among authors: fahiminiya s. Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17. Am J Med Genet A. 2014. PMID: 24939608 No abstract available.

9

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R. Reddy R, et al. Among authors: fahiminiya s. PLoS One. 2014 Sep 11;9(9):e107326. doi: 10.1371/journal.pone.0107326. eCollection 2014. PLoS One. 2014. PMID: 25211151 Free PMC article.

10

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.

Nadaf J, Majewski J, Fahiminiya S. Nadaf J, et al. Among authors: fahiminiya s. Bioinformatics. 2015 Feb 1;31(3):429-31. doi: 10.1093/bioinformatics/btu665. Epub 2014 Oct 8. Bioinformatics. 2015. PMID: 25297069 Free PMC article.

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