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An integrative variant analysis suite for whole exome next-generation sequencing data.

Challis D, Yu J, Evani US, Jackson AR, Paithankar S, Coarfa C, Milosavljevic A, Gibbs RA, Yu F.

BMC Bioinformatics. 2012 Jan 12;13:8. doi: 10.1186/1471-2105-13-8.


Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587.


Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.

Conforti L, Janeckova L, Wagner D, Mazzola F, Cialabrini L, Di Stefano M, Orsomando G, Magni G, Bendotti C, Smyth N, Coleman M.

FEBS J. 2011 Aug;278(15):2666-79. doi: 10.1111/j.1742-4658.2011.08193.x.


Nuclear transport, oxidative stress, and neurodegeneration.

Patel VP, Chu CT.

Int J Clin Exp Pathol. 2011 Mar;4(3):215-29. Review.


Mechanisms of neurodegeneration shared between multiple sclerosis and Alzheimer's disease.

Lassmann H.

J Neural Transm (Vienna). 2011 May;118(5):747-52. doi: 10.1007/s00702-011-0607-8. Review.


Wld(S), Nmnats and axon degeneration--progress in the past two decades.

Feng Y, Yan T, He Z, Zhai Q.

Protein Cell. 2010 Mar;1(3):237-45. doi: 10.1007/s13238-010-0021-2. Review.


IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI.

Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221.


An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1.

Prudencio M, Durazo A, Whitelegge JP, Borchelt DR.

Hum Mol Genet. 2010 Dec 15;19(24):4774-89. doi: 10.1093/hmg/ddq408.


The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA.

Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110.


Wallerian degeneration, wld(s), and nmnat.

Coleman MP, Freeman MR.

Annu Rev Neurosci. 2010;33:245-67. doi: 10.1146/annurev-neuro-060909-153248. Review.


A SNP discovery method to assess variant allele probability from next-generation resequencing data.

Shen Y, Wan Z, Coarfa C, Drabek R, Chen L, Ostrowski EA, Liu Y, Weinstock GM, Wheeler DA, Gibbs RA, Yu F.

Genome Res. 2010 Feb;20(2):273-80. doi: 10.1101/gr.096388.109.


Fast and accurate short read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324.


Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R.

Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Erratum in: Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B [added]; Al-Rajhi, Ali A [added].


Wld S requires Nmnat1 enzymatic activity and N16-VCP interactions to suppress Wallerian degeneration.

Avery MA, Sheehan AE, Kerr KS, Wang J, Freeman MR.

J Cell Biol. 2009 Feb 23;184(4):501-13. doi: 10.1083/jcb.200808042.


Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Review.


Energy limitation as a selective pressure on the evolution of sensory systems.

Niven JE, Laughlin SB.

J Exp Biol. 2008 Jun;211(Pt 11):1792-804. doi: 10.1242/jeb.017574. Review.


Design of a novel quantitative PCR (QPCR)-based protocol for genotyping mice carrying the neuroprotective Wallerian degeneration slow (Wlds) gene.

Wishart TM, Macdonald SH, Chen PE, Shipston MJ, Coleman MP, Gillingwater TH, Ribchester RR.

Mol Neurodegener. 2007 Oct 30;2:21.


Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.

Zhai RG, Cao Y, Hiesinger PR, Zhou Y, Mehta SQ, Schulze KL, Verstreken P, Bellen HJ.

PLoS Biol. 2006 Nov;4(12):e416.


Wlds protection distinguishes axon degeneration following injury from naturally occurring developmental pruning.

Hoopfer ED, McLaughlin T, Watts RJ, Schuldiner O, O'Leary DD, Luo L.

Neuron. 2006 Jun 15;50(6):883-95.

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