| # | Title | Journal | Year | Citations |
|---|
| 1 | Fragment Length of Circulating Tumor DNA | PLoS Genetics | 2016 | 502 |
| 2 | Validation of Metagenomic Next-Generation Sequencing Tests for Universal Pathogen Detection | Archives of Pathology and Laboratory Medicine | 2017 | 404 |
| 3 | Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines | Journal of Molecular Diagnostics | 2018 | 341 |
| 4 | Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer | Genes Chromosomes and Cancer | 2011 | 324 |
| 5 | Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss | Human Mutation | 2018 | 312 |
| 6 | Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project | Genetics in Medicine | 2011 | 308 |
| 7 | ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 | Genetics in Medicine | 2013 | 288 |
| 8 | The Role of Antibody Testing for SARS-CoV-2: Is There One? | Journal of Clinical Microbiology | 2020 | 282 |
| 9 | A Systematic Review and Meta-Analysis of the Diagnostic Accuracy of Fine-Needle Aspiration Cytology for Parotid Gland Lesions | American Journal of Clinical Pathology | 2011 | 273 |
| 10 | Detection and Identification of Microorganisms by Gene Amplification and Sequencing | Clinical Infectious Diseases | 2007 | 268 |
| 11 | Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia | Nature Communications | 2015 | 239 |
| 12 | Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations | American Journal of Medical Genetics, Part A | 2006 | 188 |
| 13 | BCR-ABL1 compound mutations in tyrosine kinase inhibitor–resistant CML: frequency and clonal relationships | Blood | 2013 | 187 |
| 14 | Influence of Geometry, Porosity, and Surface Characteristics of Silica Nanoparticles on Acute Toxicity: Their Vasculature Effect and Tolerance Threshold | ACS Nano | 2012 | 186 |
| 15 | Update on the Epidemiology of Pulmonary Nontuberculous Mycobacterial Infections | Seminars in Respiratory and Critical Care Medicine | 2013 | 179 |
| 16 | EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis | Chest | 2014 | 176 |
| 17 | Prognostic Markers for Canine Melanocytic Neoplasms | Veterinary Pathology | 2011 | 168 |
| 18 | Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting | Clinical Pharmacology and Therapeutics | 2016 | 146 |
| 19 | Evidence of increased angiogenesis in patients with acute myeloid leukemia | Blood | 2000 | 141 |
| 20 | Evaluation of Partial 16S Ribosomal DNA Sequencing for Identification of Nocardia Species by Using the MicroSeq 500 System with an Expanded Database | Journal of Clinical Microbiology | 2004 | 137 |
| 21 | Combining the Allosteric Inhibitor Asciminib with Ponatinib Suppresses Emergence of and Restores Efficacy against Highly Resistant BCR-ABL1 Mutants | Cancer Cell | 2019 | 137 |
| 22 | Susceptibility Profiles of Nocardia Isolates Based on Current Taxonomy | Antimicrobial Agents and Chemotherapy | 2014 | 136 |
| 23 | State-of-the-Art of Serum Testosterone Measurement by Isotope Dilution–Liquid Chromatography– Tandem Mass Spectrometry | Clinical Chemistry | 2008 | 131 |
| 24 | Update on Malaria Diagnostics and Test Utilization | Journal of Clinical Microbiology | 2017 | 123 |
| 25 | Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing Data | Journal of Molecular Diagnostics | 2013 | 119 |
| 26 | Novel Approach for Differentiating Shigella Species and Escherichia coli by Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry | Journal of Clinical Microbiology | 2013 | 118 |
| 27 | Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene | Human Mutation | 2007 | 117 |
| 28 | Large-Scale Evaluation of the Immuno-Mycologics Lateral Flow and Enzyme-Linked Immunoassays for Detection of Cryptococcal Antigen in Serum and Cerebrospinal Fluid | Vaccine Journal | 2013 | 113 |
| 29 | Sporadic naturally occurring melanoma in dogs as a preclinical model for human melanoma | Pigment Cell and Melanoma Research | 2014 | 112 |
| 30 | Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing | American Journal of Medical Genetics, Part A | 2014 | 108 |
| 31 | Optimization of Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry Analysis for Bacterial Identification | Journal of Clinical Microbiology | 2012 | 104 |
| 32 | Comparison of Reverse Transcription-Polymerase Chain Reaction, Immunohistochemistry, and Fluorescence In Situ Hybridization Methodologies for Detection of Echinoderm Microtubule-Associated Proteinlike 4–Anaplastic Lymphoma Kinase Fusion–Positive Non–Small Cell Lung Carcinoma: Implications for Optimal Clinical Testing | Archives of Pathology and Laboratory Medicine | 2012 | 103 |
| 33 | Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1 | Journal of Molecular Diagnostics | 2010 | 98 |
| 34 | Higher Serum 25-Hydroxyvitamin D Concentrations Associate with a Faster Recovery of Skeletal Muscle Strength after Muscular Injury | Nutrients | 2013 | 98 |
| 35 | Direct Measurement of Free Copper in Serum or Plasma Ultrafiltrate | American Journal of Clinical Pathology | 2009 | 97 |
| 36 | Prognostic Evaluation of Ki67 Threshold Value in Canine Oral Melanoma | Veterinary Pathology | 2011 | 97 |
| 37 | Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European LeukemiaNet/MPN&MPNr-EuroNet (COST action BM0902) study | Leukemia | 2013 | 96 |
| 38 | Acanthamoebakeratitis: The Persistence of Cases Following a Multistate Outbreak | Ophthalmic Epidemiology | 2012 | 95 |
| 39 | A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data | Nature Biotechnology | 2014 | 93 |
| 40 | Recommended Guidelines for Submission, Trimming, Margin Evaluation, and Reporting of Tumor Biopsy Specimens in Veterinary Surgical Pathology | Veterinary Pathology | 2011 | 92 |
| 41 | Effects of Hemoglobin C and S Traits on Glycohemoglobin Measurements by Eleven Methods | Clinical Chemistry | 2005 | 91 |
| 42 | Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 | Journal of Medical Genetics | 2008 | 90 |
| 43 | Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors | Journal of Genetic Counseling | 2011 | 89 |
| 44 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias | American Journal of Human Genetics | 2018 | 87 |
| 45 | Ncf1 (p47phox) Is Essential for Direct Regulatory T Cell Mediated Suppression of CD4+ Effector T Cells | PLoS ONE | 2011 | 86 |
| 46 | Use of Steroid Profiling by UPLC-MS/MS as a Second Tier Test in Newborn Screening for Congenital Adrenal Hyperplasia: The Utah Experience | Pediatric Research | 2009 | 85 |
| 47 | Survival of Dogs Following Surgical Excision of Histologically Well-differentiated Melanocytic Neoplasms of the Mucous Membranes of the Lips and Oral Cavity | Veterinary Pathology | 2008 | 84 |
| 48 | Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation | Human Mutation | 2020 | 84 |
| 49 | A Comparison of High-Resolution Melting Analysis With Denaturing High-Performance Liquid Chromatography for Mutation Scanning | American Journal of Clinical Pathology | 2005 | 83 |
| 50 | Poly(amido amine) dendrimers as absorption enhancers for oral delivery of camptothecin | International Journal of Pharmaceutics | 2013 | 83 |
