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Items: 1 to 20 of 44

1.

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.

Seelow D, Schuelke M.

Nucleic Acids Res. 2012 Jul;40(Web Server issue):W516-20. doi: 10.1093/nar/gks487. Epub 2012 Jun 4.

2.

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR.

Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106.

3.

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium..

Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.

4.

Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.

Ferkol TW, Leigh MW.

J Pediatr. 2012 Mar;160(3):366-71. doi: 10.1016/j.jpeds.2011.11.024. Epub 2011 Dec 16. Review. No abstract available.

5.

eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges.

Powell S, Szklarczyk D, Trachana K, Roth A, Kuhn M, Muller J, Arnold R, Rattei T, Letunic I, Doerks T, Jensen LJ, von Mering C, Bork P.

Nucleic Acids Res. 2012 Jan;40(Database issue):D284-9. doi: 10.1093/nar/gkr1060. Epub 2011 Nov 16.

6.

The emerging genetics of primary ciliary dyskinesia.

Zariwala MA, Omran H, Ferkol TW.

Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD. Review.

7.

Propulsive forces on the flagellum during locomotion of Chlamydomonas reinhardtii.

Bayly PV, Lewis BL, Ranz EC, Okamoto RJ, Pless RB, Dutcher SK.

Biophys J. 2011 Jun 8;100(11):2716-25. doi: 10.1016/j.bpj.2011.05.001.

8.

Interactive Tree Of Life v2: online annotation and display of phylogenetic trees made easy.

Letunic I, Bork P.

Nucleic Acids Res. 2011 Jul;39(Web Server issue):W475-8. doi: 10.1093/nar/gkr201. Epub 2011 Apr 5.

9.

A multifunctional lentiviral-based gene knockdown with concurrent rescue that controls for off-target effects of RNAi.

Feng Y, Nie L, Thakur MD, Su Q, Chi Z, Zhao Y, Longmore GD.

Genomics Proteomics Bioinformatics. 2010 Dec;8(4):238-45. doi: 10.1016/S1672-0229(10)60025-3.

10.

Sequence feature-based prediction of protein stability changes upon amino acid substitutions.

Teng S, Srivastava AK, Wang L.

BMC Genomics. 2010 Nov 2;11 Suppl 2:S5. doi: 10.1186/1471-2164-11-S2-S5.

11.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium., Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

12.

Synthesizing and salvaging NAD: lessons learned from Chlamydomonas reinhardtii.

Lin H, Kwan AL, Dutcher SK.

PLoS Genet. 2010 Sep 9;6(9):e1001105. doi: 10.1371/journal.pgen.1001105.

13.

Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTP.

Dishinger JF, Kee HL, Jenkins PM, Fan S, Hurd TW, Hammond JW, Truong YN, Margolis B, Martens JR, Verhey KJ.

Nat Cell Biol. 2010 Jul;12(7):703-10. doi: 10.1038/ncb2073. Epub 2010 Jun 6.

14.

Primary ciliary dyskinesia in Amish communities.

Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW.

J Pediatr. 2010 Jun;156(6):1023-5. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29.

15.

Efficient spatiotemporal analysis of the flagellar waveform of Chlamydomonas reinhardtii.

Bayly PV, Lewis BL, Kemp PS, Pless RB, Dutcher SK.

Cytoskeleton (Hoboken). 2010 Jan;67(1):56-69. doi: 10.1002/cm.20424.

16.

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H.

Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018.

17.

Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis.

Ostrowski LE, Yin W, Rogers TD, Busalacchi KB, Chua M, O'Neal WK, Grubb BR.

Am J Respir Cell Mol Biol. 2010 Jul;43(1):55-63. doi: 10.1165/rcmb.2009-0118OC. Epub 2009 Aug 12.

18.

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA.

Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Review.

19.

The vertebrate primary cilium in development, homeostasis, and disease.

Gerdes JM, Davis EE, Katsanis N.

Cell. 2009 Apr 3;137(1):32-45. doi: 10.1016/j.cell.2009.03.023. Review.

20.

Highly specific gene silencing by artificial microRNAs in the unicellular alga Chlamydomonas reinhardtii.

Molnar A, Bassett A, Thuenemann E, Schwach F, Karkare S, Ossowski S, Weigel D, Baulcombe D.

Plant J. 2009 Apr;58(1):165-74. doi: 10.1111/j.1365-313X.2008.03767.x. Epub 2009 Jan 19.

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