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| 36594462 | Genotoxic and mutagenic potential of 7-methylxanthine: an investigational drug molecule for the treatment of myopia. | | 2023 |
| 37761823 | Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation. | | 2023 |
| 38021397 | Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping. | | 2023 |
| 37899624 | Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability. | | 2023 |
| 37895217 | Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement. | | 2023 |
| 37888957 | Optical Genome Mapping for Oncology Applications. | | 2023 |
| 37962549 | Correction: Optical Genome Mapping for Oncology Applications. | | 2023 |
| 36758723 | Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing. | | 2023 |
| 37370824 | Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. | | 2023 |
| 36671517 | Genetic Predisposition to Neurological Complications in Patients with COVID-19. | Biomolecules | 2023 |
| 35241679 | Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B. | Sci Rep | 2022 |
| 35456449 | Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception. | Genes | 2022 |
| 36265723 | Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms. | Journal of Molecular Diagnostics | 2022 |
| 35036860 | Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. | iScience | 2022 |
| 34472366 | COVID-19 diagnostic assay sensitivity: lessons for the upcoming wave or next pandemic. | Future Medicinal Chemistry | 2021 |
| 33644936 | A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing. | Human Mutation | 2021 |
| 34069462 | SalivaSTAT: Direct-PCR and Pooling of Saliva Samples Collected in Healthcare and Community Setting for SARS-CoV-2 Mass Surveillance. | Diagnostics (Basel) | 2021 |
| 33799648 | Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses. | Genes | 2021 |
| 33957320 | Clinical Validation of a Sensitive Test for Saliva Collected in Healthcare and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surveillance. | J Mol Diagn | 2021 |
| 34263025 | Making a Difference: Adaptation of the Clinical Laboratory in Response to the Rapidly Evolving COVID-19 Pandemic. | Academic Pathology | 2021 |
| 34261519 | Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes? | Molecular Cytogenetics | 2021 |
| 34093633 | Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next-Generation Sequencing Platform in the CLIA Setting. | Frontiers in Genetics | 2021 |
| 33863344 | Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. | Genome Biol | 2021 |
| 33228389 | COVID-19 screening in a healthcare or community setting: complexity of saliva as a specimen for PCR-based testing. | Future Medicinal Chemistry | 2021 |
| 34449545 | Next-Generation Sequencing (NGS) in COVID-19: A Tool for SARS-CoV-2 Diagnosis, Monitoring New Strains and Phylodynamic Modeling in Molecular Epidemiology. | Current Issues in Molecular Biology | 2021 |
| 34449543 | Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology. | Current Issues in Molecular Biology | 2021 |
| 34696495 | High-Throughput Next-Generation Sequencing Respiratory Viral Panel: A Diagnostic and Epidemiologic Tool for SARS-CoV-2 and Other Viruses. | Viruses | 2021 |
| 33179525 | Effective optimization of SARS-CoV-2 laboratory testing variables in an era of supply chain constraints. | Future Microbiology | 2020 |
| 32344035 | Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray. | Journal of Molecular Diagnostics | 2020 |
| 31865307 | Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii. | Cytogenetic and Genome Research | 2020 |
| 32552003 | Role of clinical laboratories in response to the COVID-19 pandemic. | Future Medicinal Chemistry | 2020 |
| 32738298 | Proposal of RT-PCR-Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019). | Journal of Molecular Diagnostics | 2020 |
| 30264677 | Pathological Perturbations in Diabetic Retinopathy: Hyperglycemia, AGEs, Oxidative Stress and Inflammatory Pathways. | Current Protein and Peptide Science | 2019 |
| 30129402 | Deranged Metabolic Profile and Identification of Biomarkers in the Vitreous Humour of Patients with Proliferative Diabetic Retinopathy. | Protein and Peptide Letters | 2018 |
| 30554732 | Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia. | Cancer Genet | 2018 |
| 30215275 | Diabetic retinopathy: how far are we from personalized medicine? | Future Medicinal Chemistry | 2018 |
| 30113773 | Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. | American Journal of Medical Genetics, Part A | 2018 |
| 27761248 | Importance of genetic testing in global health during the evaluation of familial microcephaly. | Clinical Case Reports (discontinued) | 2016 |
| 25880438 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability. | Genetics in Medicine | 2016 |
| 27108385 | Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report. | Neoplasia | 2016 |
| 27142465 | New observation of sialuria prompts detection of liver tumor in previously reported patient. | Mol Genet Metab | 2016 |
| 26921529 | CHD8 intragenic deletion associated with autism spectrum disorder. | European Journal of Medical Genetics | 2016 |
| 25902260 | Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment. | PLoS ONE | 2015 |
| 25597765 | Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. | Gene | 2015 |
| 23587880 | Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. | Mol Psychiatry | 2014 |
| 24026681 | A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. | Human Molecular Genetics | 2014 |
| 22814392 | An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. | Hum Mol Genet | 2012 |