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Renius X. Owen

Frequency and Complexity of De Novo Structural Mutation in Autism
2016 · William M. Brandler, Danny Antaki, et al. · The American Journal of Human Genetics · 104
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Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
2014 · Boris T Wang, Thomas P Chong, et al. · Molecular Cytogenetics · 90
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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility
2014 · Jia-Chi Wang, Leslie Ross, et al. · European Journal of Human Genetics · 71
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Determination of CYP2C19 phenotype in black Americans with omeprazole: Correlation with genotype*
1996 · Jacqueline S. Marinac, John D. Balian, et al. · Clinical Pharmacology & Therapeutics · 51
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
2013 · Lauren S Marshall, Julie Simon, et al. · BMC Medical Genetics · 49
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Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD
2015 · Jessica Vasale, Fatih Boyar, et al. · Neuromuscular Disorders · 41
Recombinant Adeno-Associated Virus Vector-Based Gene Transfer for Defects in Oxidative Metabolism
2000 · Renius Owen, Alfred P. Lewin, et al. · Human Gene Therapy · 34
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
2014 · Jennifer M. Sardina, Allyson R. Walters, et al. · American Journal of Medical Genetics Part A · 26
Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory
2022 · Sun Hee Rosenthal, Anna Gerasimova, et al. · Scientific Reports · 25
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The Pyruvate Dehydrogenase Complex as a Target for Gene Therapy
2003 · Peter Stacpoole, Renius Owen, et al. · Current Gene Therapy · 20
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)
2017 · Charles M. Strom, Ben Anderson, et al. · PLoS ONE · 19
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Gene Therapy for Pyruvate Dehydrogenase E1α Deficiency Using Recombinant Adeno-Associated Virus 2 (rAAV2) Vectors
2002 · Renius Owen, Ronald J. Mandel, et al. · Molecular Therapy · 18
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Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
2019 · Carrie Guy, Farnoosh Haji‐Sheikhi, et al. · Molecular Genetics & Genomic Medicine · 17
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Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies
2012 · Daniel L Di Bartolo, Mohamed El Naggar, et al. · Molecular Cytogenetics · 17
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Systemic Correction of a Fatty Acid Oxidation Defect by Intramuscular Injection of a Recombinant Adeno-Associated Virus Vector
2006 · Thomas J. Conlon, Glenn Walter, et al. · Human Gene Therapy · 17
Identification of eight SARS-CoV-2 ORF7a deletion variants in 2,726 clinical specimens
2020 · Sun Hee Rosenthal, Ron M. Kagan, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 15
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Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
2016 · Jia-Chi Wang, Loretta W. Mahon, et al. · Molecular Cytogenetics · 14
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Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
2013 · Morteza Hemmat, Omid Hemmat, et al. · Molecular Cytogenetics · 14
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Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
2017 · Charles M. Strom, Megan D. Maxwell, et al. · New England Journal of Medicine · 13
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First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria
2014 · Mohammad Zouheir Habbal, Tarek Bou-Assi, et al. · PLoS ONE · 13
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Approaches and Limitations to Gene Therapy for Mitochondrial Diseases
2001 · Renius Owen, Terence R. Flotte · Antioxidants and Redox Signaling · 9
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms
2021 · Sun Hee Rosenthal, Anna Gerasimova, et al. · PLoS ONE · 8
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Development and Validation of a 34‐Gene Inherited Cancer Predisposition Panel Using Next‐Generation Sequencing
2020 · Sun Hee Rosenthal, Weimin Sun, et al. · BioMed Research International · 8
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Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS‐like phenotype
2013 · Jia‐Chi Wang, Mary Vaccarello‐Cruz, et al. · American Journal of Medical Genetics Part A · 7
Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening
2017 · Marlise R. Luskin, Marie N. Discenza, et al. · Blood Advances · 5
Works count: 43
Citation count: 711
H-index: 15
I10-index: 20
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