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Joel Morales Rosado, MD
Joel Morales Rosado, MD
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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
1712020
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
1242014
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
392021
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
352017
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
232023
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
212020
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
192018
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
112015
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
102021
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
102019
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
82018
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
62020
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
32024
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
32021
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
32020
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
22024
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
22023
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
12024
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
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