A5086121459- Logic, programming, and type systems
- Formal Methods in Verification
- Parallel Computing and Optimization Techniques
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Security and Verification in Computing
- Software Testing and Debugging Techniques
- Software Engineering Research
- Endoplasmic Reticulum Stress and Disease
- Advanced Malware Detection Techniques
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Logic, Reasoning, and Knowledge
- COVID-19 Clinical Research Studies
- Pancreatic function and diabetes
- Algorithms and Data Compression
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- Distributed systems and fault tolerance
- Natural Language Processing Techniques
- Computability, Logic, AI Algorithms
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
University of Alabama at Birmingham
2018-2025
Emory University
2024
Stanford University
2018-2024
University of Alabama
2018-2022
The Coordinating Center
2021
Harvard University
2016-2021
UCB Pharma (Belgium)
2019
University of Utah
2009-2018
University of California, Los Angeles
2018
Children's Hospital of Philadelphia
2017
Coronavirus disease-2019 (COVID-19) is a growing pandemic with an increasing death toll that has been linked to various comorbidities as well racial disparity. However, the specific characteristics of these at-risk populations are still not known and approaches lower mortality lacking.
Abstract Background Recent single-center reports have suggested that community-acquired bacteremic co-infection in the context of Coronavirus disease 2019 (COVID-19) may be an important driver mortality; however, these not been validated with a multicenter, demographically diverse, cohort study data spanning pandemic. Methods In this retrospective study, inpatient encounters were assessed for COVID-19 using 48-h post-admission blood cultures and grouped by: (1) confirmed [recovery bacterial...
We describe a derivational approach to abstract interpretation that yields novel and transparently sound static analyses when applied well-established machines. To demonstrate the technique support our claim, we transform CEK machine of Felleisen Friedman, lazy variant Krivine's machine, stack-inspecting CM Clements into interpretations themselves. The resulting bound temporal ordering program events; predict return-flow stack-inspection behavior; approximate flow evaluation by-need...
There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, number of disease diagnoses will continue increase, resulting need for novel treatment options. Identifying treatments these disorders is challenging due a limited understanding mechanisms, small cohort sizes, interindividual symptom variability, and little commercial incentive develop new treatments. A promising avenue drug...
Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. is a conserved cytoplasmic component Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from ER lumen. However, it unclear how loss function impacts other cellular processes results constellation problems...
Abstract Several independent lines of evidence suggest that megakaryocytes are dysfunctional in severe COVID-19. Herein, we characterized peripheral circulating a large cohort inpatients with COVID-19 and correlated the subpopulation frequencies clinical outcomes. Using blood, show increased systemic circulation COVID-19, identify validate S100A8/A9 as defining marker megakaryocyte dysfunction. We further reveal S100A8/A9+ contain acute respiratory syndrome coronavirus 2 (SARS-CoV-2) protein...
Persistent cough and dyspnea are prominent features of post-acute sequelae SARS-CoV-2 (also termed 'Long COVID'); however, physiologic measures clinical associated with these pulmonary symptoms remain poorly defined. Using longitudinal function testing (PFTs) CT imaging, this study aimed to identify the characteristics determinants Long COVID.
We present two independent and complementary improvements for flow-based analysis of higher-order languages: (1) abstract garbage collection (2) counting, collectively titled ΓCFA.Abstract is an analog to its concrete counterpart: we determine when resource has become unreachable, then reallocate it as fresh. This prevents flow sets from merging in the abstract, which immediate effects: precision increased, running time frequently reduced. In some nontrivial cases, achieve order magnitude...
Low-level program analysis is a fundamental problem, taking the shape of "flow analysis" in functional languages and "points-to" imperative object-oriented languages. Despite similarities, vocabulary results two communities remain largely distinct, with limited cross-understanding. One few links Shivers's k-CFA work, which has advanced concept "context-sensitive widely known both communities.
ABSTRACT BACKGROUND Coronavirus disease-2019 (COVID-19) is a growing pandemic with an increasing death toll that has been linked to various comorbidities as well racial disparity. However, the specific characteristics of these at-risk populations are still not known and approaches lower mortality lacking. METHODS We conducted retrospective electronic health record data analysis 25,326 subjects tested for COVID-19 between 2/25/20 6/22/20 at University Alabama Birmingham Hospital, tertiary...
With one in ten suffering from of 10,000 rare diseases, precision medicine opens a path toward identifying therapies for patients. Conversely, it is patients—through their collective experience and the knowledge captured genetics—who open common For much human history, patients diseases have found themselves beyond hope. an estimated roughly known diseases,1Haendel M. Vasilevsky N. Unni D. Bologa C. Harris Rehm H. Hamosh A. Baynam G. Groza T. McMurry J. et al.How many are there?.Nat. Rev....
De novo truncations in Interferon Regulatory Factor 2 Binding Protein Like ( IRF2BPL ) lead to severe childhood-onset neurodegenerative disorders. To determine how loss of causes neural dysfunction, we examined its function Drosophila and zebrafish. Overexpression either or Pits , the ortholog, represses Wnt transcription flies. In contrast, neuronal depletion leads increased wingless wg levels brain is associated with axonal loss, whereas inhibition Wg signaling neuroprotective. Moreover,...
Abstract The cost and time needed to conduct whole‐genome sequencing (WGS) have decreased significantly in the last 20 years. At same time, number of conditions with a known molecular basis has steadily increased, as investigational new drug applications for novel gene‐based therapeutics. prospect precision gene‐targeted therapy all seems reach… or is it? Here we consider practical strategic considerations that need be addressed establish foundation early, effective, equitable delivery these...
ABSTRACT MAPK8IP3- related neurodevelopmental disorders are a spectrum of rare conditions caused by de novo mutations in the MAPK8IP3 gene that encodes JIP3 protein. These associated with symptoms manifest children and cause brain abnormalities, profound intellectual disabilities, movement disorders, developmental delays. is required for axonal transport proteins organelles between soma synaptic terminal neurons, process critical normal development function. Homozygous loss-of-function lead...
This report explores a therapeutic hypothesis for addressing the potential effects of loss-of-function variant in MAPK8IP3 gene. We describe pediatric male with developmental delay associated an early truncation . genetic alteration is suspected to reduce levels functional JIP3 protein (encoded by gene), potentially contributing manifestations, including hypotonia, gait imbalance, frequent falls, and motor incoordination. hypothesize that increasing expression may mitigate patient’s symptoms...
NGLY1 (N-glycanase) is a de-glycosylating enzyme that promotes clearance of misfolded glycan proteins. deficiency leads to disease pathology with varied symptoms, including severe neurological defects. There are no therapeutic options currently available for the treatment this rare disease. With goal finding potential avenues, we performed comprehensive characterization aberrant cellular stress pathways in patient relevant model deficiency. For more accurate study without other confounding...
We present a functional approach to parsing unrestricted context-free grammars based on Brzozowski's derivative of regular expressions. If we consider as recursive expressions, equational theory extends without modification (and it generalizes parser combinators). The supporting actors in this story are three concepts familiar programmers - laziness, memoization and fixed points; these allow original equations be transliterated into purely code about 30 lines spread over functions. Yet,...
Sound malware analysis of Android applications is challenging. First, object-oriented programs exhibit highly interprocedural, dynamically dispatched control structure. Second, the programming paradigm relies heavily on asynchronous execution multiple entry points. Existing techniques focus more second challenge, while relying traditional analytic that suffer from inherent imprecision or unsoundness to solve first.