Cargando…

360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits

OBJECTIVES/GOALS: Assess the diagnostic yield and test utilization of WES in patients having complex traits. We aim to evaluate the use of the first genetic approach for the identification of primary variants that contribute to neurogenetic disease etiology and influence onset and progression in Pue...

Descripción completa

Detalles Bibliográficos
Autores principales:	Albino, Elinette, Carlo, Simon, Chapel-Crespo, Cristel, Santiago-Cornier, Alberto, Buxo, Carmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cambridge University Press 2022
Materias:	Valued Approaches
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209071/ http://dx.doi.org/10.1017/cts.2022.204

Ejemplares similares

11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans
por: Albino, Elinette, et al.
Publicado: (2021)

315 Development of a Mobile Software Application to Promote Education, Self-Care, and Treatment Follow-Up among Puerto Rican Breast Cancer Patients
por: Abreu, Jenniffer, et al.
Publicado: (2022)

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico
por: Albino, Elinette M, et al.
Publicado: (2023)

397 Factors needing attention to implement effective drug treatment in community correctional in Puerto Rico
por: Vega Debien, Graciela D., et al.
Publicado: (2022)

448 Isolation and identification of bioprospects capable of metabolizing 17-beta-estradiol and 17-alpha-ethinylestradiol using metagenomics and culture-dependent techniques in Puerto Rico
por: Ríos-Velázquez, Carlos, et al.
Publicado: (2022)

445 Inhibition of GPR30 Reveals Putative Genes Involved in the Pathogenesis of Inflammatory Breast Cancer
por: Carrion-Laureano, Melanie, et al.
Publicado: (2022)

331 A Machine Learning-based Pharmacogenomic Association Study of Major Adverse Cardiovascular Events (MACEs) in Caribbean Hispanic Patients on Clopidogrel
por: Arroyo, Luis A. Rosario, et al.
Publicado: (2022)

418 Activation of the Glucagon-Like Peptide-1 Pathway in Obese Pre-Diabetic Individuals Improves Endothelial Function Independently of Weight Loss
por: Mashayekhi, Mona, et al.
Publicado: (2022)

350 Investigating the Architecture of Speech Processing Pathways in the Brain
por: Nikolov, Plamen, et al.
Publicado: (2022)

259 Proton pump inhibitor use is not significantly associated with severe COVID-19 related outcomes after extensive covariate adjustment
por: Shah, Shailja C., et al.
Publicado: (2022)

297 The Acute to Chronic Pain Signatures Program (A2CPS): Conceptual Design and Protocol Implementation of a Multi-site Observational Study Assessing Risk and Resilience Biomarkers
por: Berardi, Giovanni, et al.
Publicado: (2022)

251 Sociodemographic and clinical variation in rates of hospitalization for diabetic ketoacidosis
por: Lacy, Mary E, et al.
Publicado: (2022)

302 Abaloparatide as a novel therapy for posttraumatic osteoarthritis
por: Landgrave, Samantha H., et al.
Publicado: (2022)

352 Computational methods for predicting drug combinations for targeting KRAS mutations relevant to non-small cell lung cancer
por: Bruggemann, Liana, et al.
Publicado: (2022)

464 A Novel High Dose Rate Brachytherapy Device for Preventing Local Recurrence of Pancreatic Cancer Dosimetry Verification
por: Verma, Rohan, et al.
Publicado: (2022)

325 Blood pressure and the kidney cortex transcriptome response to high sodium diet challenge in female nonhuman primates
por: Riojas, Angelica M., et al.
Publicado: (2022)

279 “It just seems like people are talking about menopause, but nobody has a solution”: A qualitative exploration of menopause experiences and preferences for weight management among Black women
por: Marlatt, Kara, et al.
Publicado: (2022)

353 MFM Provider Adherence to USPSTF Low Dose Aspirin Guidelines for Preeclampsia Prevention in Nulliparous Patients
por: Myers, Sabrena O., et al.
Publicado: (2022)

410 Mild Maternal Undernutrition Results in a Premature Neonatal Leptin Surge and Resistance in Male Offspring to a High Fat Diet
por: Miles, Tiffany K., et al.
Publicado: (2022)

434 In silico ADMET optimization and preliminary biologic activity of novel spermine oxidase inhibitors as neuroprotective agents
por: Furbish, Amelia B, et al.
Publicado: (2022)

238 The association between quitting electronic cigarette use in pregnancy and the risk of preterm birth and low birth weight
por: Ammar, Lin, et al.
Publicado: (2022)

265 The design of a virtual museum to address social disconnection and pain among individuals with chronic pain (IWCP)
por: Koebner, Ian, et al.
Publicado: (2022)

311 Rib Fractures in Geriatric Trauma: A Review of 1,037 Cases at a Single Level I Trauma Center
por: Sheppard, Forest, et al.
Publicado: (2022)

370 Developing a Digitally Integrated Endotracheal Tube for Neonates to Improve Safety and Respiratory Function
por: Nienaber, Thomas, et al.
Publicado: (2022)

362 Group Model Building to characterize the experiences of older adults with type 1 diabetes (T1D) with continuous glucose monitoring (CGM) therapy and uncover suboptimal response patterns
por: Kahkoska, Anna R, et al.
Publicado: (2022)

444 Post-translational role of RNA modifications in sRNA chaperone Hfq
por: Nurse, Jalisa, et al.
Publicado: (2022)

363 School-age Morphological And Neurodevelopmental Outcomes In Patients With Sagittal Craniosynos
por: Fotouhi, Annahita R, et al.
Publicado: (2022)

321 Impact of CDK4/6 inhibitor-induced cellular senescence on stromal responses to breast cancer
por: Gallanis, Gregory T., et al.
Publicado: (2022)

369 The impact of asymmetric lung injury on gas and pressures distribution in a mechanical ventilation model with implementation of compartmentalized inspiratory hold
por: Meyerowitz, Glen, et al.
Publicado: (2022)

408 In vivo calcium imaging in the medial prefrontal cortex reveals novel site of action for therapeutic effects of Neuromedin U
por: Miller, Sierra N., et al.
Publicado: (2022)

310 Transcriptomics for gallbladder cancer prognosis
por: Jackson, Linsey, et al.
Publicado: (2022)

316 Frontal-cerebellar EEG source localization and functional connectivity as predictors of Alzheimer’s disease-related cognitive decline
por: Paitel, Elizabeth R., et al.
Publicado: (2022)

284 Explaining the Transportation Dimension of Food Access
por: Grover, Raneitra
Publicado: (2022)

313 Biobehavioral predictors of dose-limiting toxicities of cancer therapy: Identification of areas for preventative intervention
por: Thornton, Clifton P., et al.
Publicado: (2022)

299 Serum Aldosterone and Urine Electrolytes Dynamics in Response to DASH Diet Intervention
por: Bielopolski, Dana, et al.
Publicado: (2022)

378 Successful Conversion of a Hybrid Idea Competition and Funding Mechanism to Fully Virtual: A Case Study
por: Cuddihy, Meghan J, et al.
Publicado: (2022)

307 Patients expectations of benefits from large-panel genomic tumor testing in rural community oncology practices
por: Anderson, Eric C., et al.
Publicado: (2022)

376 The Role of Antiretroviral Treatment Patenting on Consumer Pricing: Declining Viral Suppression and Treatment Non-Adherence Among HIV Patients in Los Angeles County
por: Crovetto, Arianna
Publicado: (2022)

224 Ends of Endemics: Capturing Viral UTRs in Clinically Relevant Arbovirus Samples
por: Morris, Victoria, et al.
Publicado: (2022)

365 Communication about Genetic Testing to Adult Women with a Higher Risk of Cancer in the United States: A Cross-sectional Analysis of the Health Information National Trends Survey (2017-2020)
por: Pottinger, Camille
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_024c8rorkfj1rk72vp9ug80606