Smaoui N - Search Results

1

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. Esmaeeli Nieh S, et al. Among authors: smaoui n. Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125038 Free PMC article.

2

Clinical application of whole-exome sequencing across clinical indications.

Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Among authors: smaoui n. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542 Free article.

3

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM. Mendelsohn BA, et al. Among authors: smaoui n. Am J Med Genet A. 2014 Aug;164A(8):2079-83. doi: 10.1002/ajmg.a.36590. Epub 2014 May 12. Am J Med Genet A. 2014. PMID: 24818805

4

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S. Dhamija R, et al. Among authors: smaoui n. Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27. Eur J Med Genet. 2014. PMID: 24583203

5

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

Aradhya S, Lewis R, Bonaga T, Nwokekeh N, Stafford A, Boggs B, Hruska K, Smaoui N, Compton JG, Richard G, Suchy S. Aradhya S, et al. Among authors: smaoui n. Genet Med. 2012 Jun;14(6):594-603. doi: 10.1038/gim.2011.65. Epub 2012 Mar 1. Genet Med. 2012. PMID: 22382802 Free article.

6

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X. D'Souza L, et al. Among authors: smaoui n. Mol Vis. 2013 Nov 7;19:2209-16. eCollection 2013. Mol Vis. 2013. PMID: 24227916 Free PMC article.

7

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.

Aradhya S, Smaoui N, Marble M, Lacassie Y. Aradhya S, et al. Among authors: smaoui n. Am J Med Genet A. 2011 Feb;155A(2):442-4. doi: 10.1002/ajmg.a.33814. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271670 No abstract available.

8

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A. Duncan JL, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9614-23. doi: 10.1167/iovs.11-8600. Invest Ophthalmol Vis Sci. 2011. PMID: 22110067 Free PMC article.

9

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF. Chen J, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24. doi: 10.1167/iovs.11-7554. Invest Ophthalmol Vis Sci. 2011. PMID: 21642631 Free PMC article.

10

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. Sergeev YV, et al. Among authors: smaoui n. Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8. Hum Mol Genet. 2010. PMID: 20061330 Free PMC article.

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