Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 29

Cited In for PubMed (Select 20004881)

1.

Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Gerstberger S, Hafner M, Ascano M, Tuschl T.

Adv Exp Med Biol. 2014;825:1-55. doi: 10.1007/978-1-4939-1221-6_1. Review.

2.

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.

Sartelet A, Stauber T, Coppieters W, Ludwig CF, Fasquelle C, Druet T, Zhang Z, Ahariz N, Cambisano N, Jentsch TJ, Charlier C.

Dis Model Mech. 2014 Jan;7(1):119-28. doi: 10.1242/dmm.012500. Epub 2013 Oct 23.

3.

Animal models of human granulocyte diseases.

Schäffer AA, Klein C.

Hematol Oncol Clin North Am. 2013 Feb;27(1):129-48, ix. doi: 10.1016/j.hoc.2012.10.005. Epub 2012 Oct 31. Review.

4.

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M.

PLoS One. 2013;8(1):e53083. doi: 10.1371/journal.pone.0053083. Epub 2013 Jan 11.

5.

Clinical utility gene card for: poikiloderma with neutropenia.

Larizza L, Negri G, Colombo EA, Volpi L, Sznajer Y.

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.298. Epub 2013 Jan 16. No abstract available.

6.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A.

Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

7.

The impact of genomics on pediatric research and medicine.

Connolly JJ, Hakonarson H.

Pediatrics. 2012 Jun;129(6):1150-60. doi: 10.1542/peds.2011-3636. Epub 2012 May 7. Review.

8.

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, Rutkowski A, Bonnemann C, Hegde M.

J Mol Diagn. 2012 May-Jun;14(3):233-46. doi: 10.1016/j.jmoldx.2012.01.009. Epub 2012 Mar 16.

9.

Analysis of DNA sequence variants detected by high-throughput sequencing.

Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC.

Hum Mutat. 2012 Apr;33(4):599-608. doi: 10.1002/humu.22035. Epub 2012 Feb 28.

10.

The genetics of dyskeratosis congenita.

Mason PJ, Bessler M.

Cancer Genet. 2011 Dec;204(12):635-45. doi: 10.1016/j.cancergen.2011.11.002. Review.

11.

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Lin X, Tang W, Ahmad S, Lu J, Colby CC, Zhu J, Yu Q.

Hear Res. 2012 Jun;288(1-2):67-76. doi: 10.1016/j.heares.2012.01.004. Epub 2012 Jan 14. Review.

12.

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L.

Orphanet J Rare Dis. 2012 Jan 23;7:7. doi: 10.1186/1750-1172-7-7.

13.

Exome capture sequencing identifies a novel mutation in BBS4.

Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R.

Mol Vis. 2011;17:3529-40. Epub 2011 Dec 30.

14.

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.

Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, Binder S, Quackenbush J, Nelson SF.

Bioinformatics. 2011 Oct 1;27(19):2648-54. doi: 10.1093/bioinformatics/btr462. Epub 2011 Aug 9.

15.

Dyskeratosis congenita as a disorder of telomere maintenance.

Nelson ND, Bertuch AA.

Mutat Res. 2012 Feb 1;730(1-2):43-51. doi: 10.1016/j.mrfmmm.2011.06.008. Epub 2011 Jul 2. Review.

16.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE.

Eur J Hum Genet. 2012 Jan;20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29.

17.

Congenital neutropenia: diagnosis, molecular bases and patient management.

Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB.

Orphanet J Rare Dis. 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. Review.

18.

The impact of next-generation sequencing on genomics.

Zhang J, Chiodini R, Badr A, Zhang G.

J Genet Genomics. 2011 Mar 20;38(3):95-109. doi: 10.1016/j.jgg.2011.02.003. Epub 2011 Mar 15. Review.

19.

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN.

Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28.

20.

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL.

Am J Med Genet A. 2011 Feb;155A(2):337-42. doi: 10.1002/ajmg.a.33807. Epub 2010 Dec 22.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk