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List of works by Renius Owen

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory

scientific article

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

scientific article

Clinical array comparative genomic hybridization: a new paradigm.

scientific article published in April 2008

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

scientific article

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

scientific article published on 22 January 2020

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

scientific article

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

scientific article

Frequency and Complexity of De Novo Structural Mutation in Autism

scientific article

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

scientific article published on September 2002

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

scientific article published on 2 May 2013

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays.

scientific article

Identification of eight SARS-CoV-2 ORF7a deletion variants in 2,726 clinical specimens

scientific article

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

scientific article published on 01 January 2017

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

scientific article

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

scientific article

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

scientific article

Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening

scientific article published on 15 August 2017

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.

scientific article

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

scientific article published on 17 May 2013

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

scientific article published on 10 December 2018

Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory

scientific article published on 31 January 2019

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

scientific article

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

scientific article published on January 2006

The pyruvate dehydrogenase complex as a target for gene therapy

scientific article

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