Publications by authors named "Renius Owen"

23Publications

PAX5, NOTCH3, CBFB, and ACD drive an activated RAS pathway and monosomy 7 to B-ALL and AML in donor cell leukemia.

Bone Marrow Transplant 2019 07 10;54(7):1124-1128. Epub 2018 Dec 10.

Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41409-018-0419-7DOI Listing
July 2019

Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening.

Prenat Diagn 2017 09 25;37(9):935-937. Epub 2017 Jul 25.

Division of Molecular Genetics, Quest Diagnostics, San Juan Capistrano, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5103DOI Listing
September 2017

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis.

N Engl J Med 2017 01;376(2):188-189

Quest Diagnostics Nichols Institute, San Juan Capistrano, CA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1604205DOI Listing
January 2017

Frequency and Complexity of De Novo Structural Mutation in Autism.

Am J Hum Genet 2016 Apr 24;98(4):667-79. Epub 2016 Mar 24.

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833290PMC
April 2016

First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.

PLoS One 2014 18;9(9):e106948. Epub 2014 Sep 18.

Department of Laboratory Medicine, University of California San Francisco, San Francisco, California, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0106948PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169433PMC
June 2015

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.

Am J Med Genet A 2014 Jul 26;164A(7):1761-4. Epub 2014 Mar 26.

Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine School of Medicine, Orange, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36494DOI Listing
July 2014

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.

Am J Med Genet A 2013 Jul 17;161A(7):1695-701. Epub 2013 May 17.

Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35939DOI Listing
July 2013

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Mol Cytogenet 2012 Jul 9;5(1):31. Epub 2012 Jul 9.

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College/NewYork-Presbyterian Hospital, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-5-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419606PMC
July 2012

Clinical array comparative genomic hybridization: a new paradigm.

Expert Opin Med Diagn 2008 Apr;2(4):449-59

Senior Scientist Quest Diagnostics Nichols Institute, Department of Cytogenetics, 33608 Ortega Highway San Juan Capistrano, CA 92675, USA +1 949 728 4805 ; +1 949 728 4979 ;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1517/17530059.2.4.449DOI Listing
April 2008

Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector.

Hum Gene Ther 2006 Jan;17(1):71-80

Department of Pediatrics, Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, and Department of Pediatrics, Children's Hospital of Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2006.17.71DOI Listing
January 2006

The pyruvate dehydrogenase complex as a target for gene therapy.

Curr Gene Ther 2003 Jun;3(3):239-45

Department of Medicine, Division of Endocrinology and Metabolism, University of Florida, College of Medicine, Gainesville, FL 32610, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1566523034578320DOI Listing
June 2003

Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors.

Mol Ther 2002 Sep;6(3):394-9

Department of Pediatrics, The General Clinical Research Center, University of Florida, Gainesville, Florida 32610, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1006/mthe.2002.0683DOI Listing
September 2002