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Pamela R. Pretorius, Ph.D. - Publications

Affiliations: 
2010 Genetics University of Iowa, Iowa City, IA 
Area:
Genetics
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5 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 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. Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases. Scientific Reports. 6: 29946. PMID 27425195 DOI: 10.1038/Srep29946  0.429
2015 Duffy EA, Pretorius PR, Lerach S, Lohr JL, Hirsch B, Souza CM, Veillette A, Schimmenti LA. Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A. American Journal of Medical Genetics. Part A. 167: 2674-83. PMID 26250342 DOI: 10.1002/Ajmg.A.37279  0.365
2011 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. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes & Development. 25: 2347-60. PMID 22085962 DOI: 10.1101/Gad.173443.111  0.397
2011 Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Human Molecular Genetics. 20: 1625-32. PMID 21282186 DOI: 10.1093/Hmg/Ddr039  0.461
2010 Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. Plos Genetics. 6: e1000884. PMID 20333246 DOI: 10.1371/Journal.Pgen.1000884  0.458
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