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Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.
PLoS Genet. 2010 Mar 19;6(3):e1000884. doi: 10.1371/journal.pgen.1000884.
PLoS Genet. 2010.
PMID: 20333246
Free PMC article.
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC.
Pretorius PR, et al.
Hum Mol Genet. 2011 Apr 15;20(8):1625-32. doi: 10.1093/hmg/ddr039. Epub 2011 Jan 31.
Hum Mol Genet. 2011.
PMID: 21282186
Free PMC article.
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An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.
Wright KJ, Baye LM, Olivier-Mason A, Mukhopadhyay S, Sang L, Kwong M, Wang W, Pretorius PR, Sheffield VC, Sengupta P, Slusarski DC, Jackson PK.
Wright KJ, et al. Among authors: pretorius pr.
Genes Dev. 2011 Nov 15;25(22):2347-60. doi: 10.1101/gad.173443.111.
Genes Dev. 2011.
PMID: 22085962
Free PMC article.
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Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.
Duffy EA, Pretorius PR, Lerach S, Lohr JL, Hirsch B, Souza CM, Veillette A, Schimmenti LA.
Duffy EA, et al. Among authors: pretorius pr.
Am J Med Genet A. 2015 Nov;167A(11):2674-83. doi: 10.1002/ajmg.a.37279. Epub 2015 Aug 6.
Am J Med Genet A. 2015.
PMID: 26250342
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Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
Pei W, Xu L, Varshney GK, Carrington B, Bishop K, Jones M, Huang SC, Idol J, Pretorius PR, Beirl A, Schimmenti LA, Kindt KS, Sood R, Burgess SM.
Pei W, et al. Among authors: pretorius pr.
Sci Rep. 2016 Jul 18;6:29946. doi: 10.1038/srep29946.
Sci Rep. 2016.
PMID: 27425195
Free PMC article.
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