Population genetic screening efficiently identifies carriers of autosomal dominant diseases JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith, KA Schlauch, ... Nature medicine 26 (8), 1235-1239, 2020 | 171 | 2020 |
Toll-like receptor agonists promote prolonged triglyceride storage in macrophages Y Huang, J Morales-Rosado, J Ray, TG Myers, T Kho, M Lu, RS Munford Journal of Biological Chemistry 289 (5), 3001-3012, 2014 | 124 | 2014 |
Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, F Pinto e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 23 (3), 498-507, 2021 | 39 | 2021 |
Deciphering the DNA code for the function of the Drosophila polydactyl zinc finger protein Suppressor of Hairy-wing RM Baxley, JD Bullard, MW Klein, AG Fell, JA Morales-Rosado, T Duan, ... Nucleic acids research 45 (8), 4463-4478, 2017 | 35 | 2017 |
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy JA Morales-Rosado, TL Schwab, SK Macklin-Mantia, AR Foley, ... The American Journal of Human Genetics 110 (6), 989-997, 2023 | 23 | 2023 |
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1 KM Wilton, JA Morales‐Rosado, D Selcen, K Muthusamy, S Ewing, ... JIMD reports 53 (1), 22-28, 2020 | 21 | 2020 |
A case of YY1‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis JA Morales‐Rosado, C Kaiwar, BE Smith, EW Klee, R Dhamija American Journal of Medical Genetics Part A 176 (12), 2846-2849, 2018 | 19 | 2018 |
A critical review of repurposing apomorphine for smoking cessation JA Morales-Rosado, MA Cousin, JO Ebbert, EW Klee Assay and drug development technologies 13 (10), 612-622, 2015 | 11 | 2015 |
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics JA Morales-Rosado, K Goel, L Zhang, A Åkerblom, S Baheti, JL Black, ... Cardiovascular drugs and therapy 35, 549-559, 2021 | 10 | 2021 |
Micropapillary adenocarcinoma of lung: Morphological criteria and diagnostic reproducibility among pulmonary pathologists PC Monroig-Bosque, JA Morales-Rosado, AC Roden, A Churg, R Barrios, ... Annals of Diagnostic Pathology 41, 43-50, 2019 | 10 | 2019 |
Correlation Between Programmed Death Receptor-1 Expression in Tumor-Infiltrating Lymphocytes and Programmed Death Ligand-1 Expression in Non–Small Cell Lung Carcinoma P del C. Monroig-Bosque, B Driver, JA Morales-Rosado, M Deavers, ... Archives of pathology & laboratory medicine 142 (11), 1388-1393, 2018 | 8 | 2018 |
Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia JA Morales‐Rosado, EL Macke, MA Cousin, GR Oliver, R Dhamija, ... Molecular Genetics & Genomic Medicine 8 (9), e1341, 2020 | 6 | 2020 |
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway M Gong, J Li, Z Qin, MVMB Wilke, Y Liu, Q Li, H Liu, C Liang, ... The American Journal of Human Genetics 111 (11), 2392-2410, 2024 | 3 | 2024 |
Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review JA Morales‐Rosado, H Singh, RJ Olson, BT Larsen, MM Hager, EW Klee, ... American Journal of Medical Genetics Part A 185 (6), 1883-1887, 2021 | 3 | 2021 |
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C EL Macke, JA Morales-Rosado, A Gupta, CT Schmitz, T Kruisselbrink, ... Molecular Case Studies 6 (4), a005165, 2020 | 3 | 2020 |
Mayo Clinic Tapestry study: a large-scale decentralized whole exome sequencing study for clinical practice, research discovery, and genomic education LA Bandel, RA Vierkant, TM Kruisselbrink, ML Bublitz, TA Wilson, ... Mayo Clinic Proceedings 99 (12), 1878-1894, 2024 | 2 | 2024 |
Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, FP e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 25 (2), 100359, 2023 | 2 | 2023 |
Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential S Tian, G Jenkinson, A Ferrer, H Yan, JA Morales-Rosado, KL Wang, ... bioRxiv, 2024.04. 22.590586, 2024 | 1 | 2024 |
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data A Ferrer, P Duffy, RJ Olson, MA Meiners, L Schultz-Rogers, EL Macke, ... Human genetics 143 (5), 649-666, 2024 | | 2024 |
PB1136 Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene K Lee, S Mohan, S Tracey, J Morales-Rosado, B Branchford, E Castoldi, ... Research and Practice in Thrombosis and Haemostasis 7, 2023 | | 2023 |