A5041238268- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Attention Deficit Hyperactivity Disorder
- Knee injuries and reconstruction techniques
- Cancer Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Protein Structure and Dynamics
- Cancer, Hypoxia, and Metabolism
- Genetics, Bioinformatics, and Biomedical Research
- Cardiovascular Syncope and Autonomic Disorders
- Energy and Environment Impacts
- Lymphoma Diagnosis and Treatment
- Health, Environment, Cognitive Aging
- COVID-19 Clinical Research Studies
- Glioma Diagnosis and Treatment
- Cardiovascular Disease and Adiposity
- Chronic Kidney Disease and Diabetes
Children's Hospital of Philadelphia
2015-2025
Dana-Farber Brigham Cancer Center
2025
Louisiana State University
2023-2024
Texas Oncology
2023
University of South Carolina
2022
University of West Florida
2019
Abstract Mental disorders present a global health concern, while the diagnosis of mental can be challenging. The is even harder for patients who have more than one type disorder, especially young toddlers are not able to complete questionnaires or standardized rating scales diagnosis. In past decade, multiple genomic association signals been reported disorders, some which attractive drug targets. Concurrently, machine learning algorithms, deep successful in and/or labeling complex diseases,...
The Event Horizon Telescope (EHT) has produced horizon-resolving images of Sagittarius A* (Sgr A$^*$). Scattering in the turbulent plasma interstellar medium distorts appearance Sgr A$^*$ on scales only marginally smaller than fiducial resolution EHT. Therefore, this process both diffractive blurs and adds stochastic refractive substructures that limits practical angular EHT A$^*$. We utilized a novel recurrent neural network machine learning framework to demonstrate it is possible mitigate...
Abstract Background Postural orthostatic tachycardia syndrome (POTS) is a complex disorder with serious health consequences, while its etiology remains largely elusive. Objective The purpose of this study was to investigate the genetic landscape POTS using genomic approaches in unique pediatric cohort. Methods We conducted combined genome wide genotyping and whole exome sequencing (WES) systemically examine molecular mechanisms pathogenesis. patients were genotyped as two independent...
Congenital heart defects (CHD) are a common birth defect, affecting approximately 1% of newborn children in the United States. As previously reported, significant number CHD potentially attributed to altered copy variations (CNV). However, as many genomic variants rare, large scale CNV triad study is necessary characterize genetic architecture CHD. We used whole exome sequencing (WES) data generated by Pediatric Cardiac Genomics Consortium (PCGC), including discovery set 2,103 individuals...
Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence 1.7 per 100,000 live births and can be associated other lower-limb abnormalities such as ACL agnesia absence menisci knee. While few cases ACL/PCL reported literature, number large familial case series related conditions suggest potential underlying monogenic etiology. We performed whole exome sequencing family two individuals affected...
Current understanding of the underlying molecular network and mechanism for attention-deficit hyperactivity disorder (ADHD) is lacking incomplete. Previous studies suggest that genomic structural variations play an important role in pathogenesis ADHD. For effective modeling, deep learning approaches have become a method choice, with ability to predict impact genetic involving complicated mechanisms. In this study, we examined copy number variation whole genome sequencing from 116 African...
Mental disorders present a global health concern and have limited treatment options. In today's medical practice, medications such as antidepressants are prescribed not only for depression but also conditions anxiety attention deficit hyperactivity disorder (ADHD). Therefore, identifying gene targets specific is important offers improved precision. this study, we performed genetic analysis of six common mental disorders-ADHD, anxiety, depression, delays in development, intellectual...
The ongoing coronavirus disease (COVID-19) outbreak has posed an extraordinary threat to global public health. Patients with certain underlying medical conditions, such as obesity, hypertension, and diabetes are at increased risk for poor outcome in COVID-19.1Richardson S. Hirsch J.S. Narasimhan M. et al.Presenting characteristics, comorbidities, outcomes among 5700 patients hospitalized COVID-19 the New York City area.JAMA. 2020; 323: 2052-2059Crossref PubMed Scopus (6527) Google Scholar...
Directed evolution (DE) mimics natural selection to improve the functions of a target protein. Machine learning (ML) has significantly streamlined DE by aiding in several steps, which includes identifying starting variants, generating diverse libraries and modeling sequence-fitness relationships. To date, majority ML-assisted (MLDE) approaches relied predominantly on sequence information due challenges cost obtaining protein structure information. Here, we introduce structure-augmented MLDE...
Directed evolution (DE) mimics natural selection to improve the functions of a target protein. Machine learning (ML) has significantly streamlined DE by aiding in several steps, which includes identifying starting variants, generating diverse libraries and modeling sequence-fitness relationships. To date, majority ML-assisted (MLDE) approaches relied predominantly on sequence information due challenges cost obtaining protein structure information. Here, we introduce structure-augmented MLDE...
Background: Postural orthostatic tachycardia syndrome (POTS) is a complex disorder with serious health consequences, while its etiology remains largely elusive. Objective: To investigate the genetic landscape of POTS using genomic approaches in unique pediatric cohort. Methods: We conducted combined genome wide genotyping and whole exome sequencing (WES) study to systemically examine molecular mechanisms pathogenesis. The patients for were genotyped as two independent cohorts, family cohort...
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused a 21q22.11 microdeletion that encompasses multiple genes. Here, we report genocopy thrombocytopenia PRS loss-of-function mutation in KIF15 consanguineous Saudi Arabian family. Mutations mitotic kinesins are well-established cause microcephaly. To our knowledge, first kinesin associated with thrombocytopenia.
Asthma is a complex condition largely attributed to the interactions among genes and environments as heterogeneous phenotype. Obesity significantly associated with asthma development, genetic studies on obese vs. non-obese are warranted.To investigate in minority African American (AA) population or without obesity, we performed whole genome sequencing (WGS) study blood-derived DNA of 4289 AA individuals, included 2226 patients (1364 obesity 862 obesity) 2006 controls asthma. The burden...
Neuroblastoma is a childhood malignancy that arises from the developing sympathetic nervous system. Although mitochondrial dysfunctions have been implicated in pathophysiology of neuroblastoma, role DNA (mtDNA) has not extensively investigated.A total 2404 Caucasian children diagnosed with neuroblastoma and 9310 ancestry-matched controls were recruited at Children's Hospital Philadelphia. The mtDNA haplogroups identified SNP array data two independent cohorts. We conducted case-control study...
Objective Juvenile idiopathic arthritis (JIA) is the most common type of among children, but a few studies have investigated contribution rare variants to JIA. In this study, we aimed identify coding associated with JIA for genome-wide landscape. Methods We established variant calling and filtering pipeline performed gene-based association analyses on three RNA-seq datasets composed 228 patients in Gene Expression Omnibus against different sets controls, further conducted replication our...
Abstract Hereditary cystatin C amyloid angiopathy is a dominantly inherited disease caused by leucine to glutamine variant of human (hCC). L68Q-hCC forms deposits in brain arteries associated with micro-infarcts, leading ultimately paralysis, dementia and death young adults. To evaluate the ability molecules interfere aggregation hCC while informing about cellular toxicity, we generated cells that produce secrete WT have detected high-molecular weight complexes formed from mutant protein....
Neuroblastoma is a childhood cancer that originates in the developing sympathetic nervous system. We previously reported crucial role of mitochondrial DNA haplogroups pathology neuroblastoma. To pinpoint variants associated with neuroblastoma risk, we applied genome imputation pipeline to single nucleotide polymorphisms array data 2 pediatric cohorts containing total 2404 patients and 9310 cancer-free controls. All statistical tests were 2-sided. The variant, rs2853493, was statistically...
JDM is a serious autoimmune and complex genetic disease. Another disease, type 1 diabetes (T1D), has been observed for significantly increased prevalence in families with JDM, while risk also T1D cases. This study aimed to whether these two diseases, T1D, share common susceptibility.From 169 families, 121 unrelated cases European ancestry (EA) were identified by genome-wide genotyping, principal component analysis identical-by-descent (IBD) analysis. score (GRS) calculated compared 361 EA...
Directed evolution (DE) adapts the evolutionary process of nature to improve functions a target protein. Machine learning (ML) has contributed many steps in DE identify starting variants, generate pool map sequence fitness and optimize sequence-function models. To date, majority ML-assisted (MLDE) approaches utilized exclusively information for their campaigns due challenges cost associated with generating protein structure information. Here, we examine two examples structure-informed MLDE...