A5035537292- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Neurogenesis and neuroplasticity mechanisms
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Tryptophan and brain disorders
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Cleft Lip and Palate Research
- Barrier Structure and Function Studies
- Extracellular vesicles in disease
- Schizophrenia research and treatment
- Cell Image Analysis Techniques
- Mental Health and Psychiatry
- 3D Printing in Biomedical Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Single-cell and spatial transcriptomics
- MicroRNA in disease regulation
- RNA Interference and Gene Delivery
- Biomedical Text Mining and Ontologies
Cornell University
2019-2024
Weill Cornell Medicine
2019-2024
MIND Research Institute
2019-2024
Quinnipiac University
2024
Rutgers, The State University of New Jersey
2016
Rutgers New Jersey Medical School
2016
Abstract The cellular mechanisms of autism spectrum disorder (ASD) are poorly understood. Cumulative evidence suggests that abnormal synapse function underlies many features this disease. Astrocytes regulate several key neuronal processes, including the formation synapses and modulation synaptic plasticity. Astrocyte abnormalities have also been identified in postmortem brain tissue ASD individuals. However, it remains unclear whether astrocyte pathology plays a mechanistic role ASD, as...
Abstract Schizophrenia (SCZ) is a complex neurodevelopmental disorder characterized by the manifestation of psychiatric symptoms in early adulthood. While many research avenues into origins SCZ during brain development have been explored, contribution endothelial/vascular dysfunction to disease remains largely elusive. To model neuropathology critical periods development, we utilized patient-derived induced pluripotent stem cells (iPSCs) generate 3D cerebral organoids and define...
<title>Abstract</title> Autism Spectrum Disorder (ASD) affects 1 percent of the world's population with an increased prevalence 178 since 2000. Although altered synaptic function putatively accounts for many abnormalities seen in ASD, specific molecular mechanisms underlying this disorder remain poorly defined. A growing body evidence suggests that extracellular vesicles (EVs), specifically exosomes, play a critical role cellular communication within brain. While they have been implicated...
Brain injuries, such as cerebral hypoxia–ischemia (H‐I), induce a regenerative response from the neural stem/progenitors (NSPs) of subventricular zone (SVZ); however, mechanisms that regulate this expansion have not yet been fully elucidated. The Notch‐ Delta‐Serrate‐Lag2 (DSL) signaling pathway is considered essential for maintenance stem cells, but it known if necessary NSPs subsequent to perinatal H‐I injury. Therefore, aim study was investigate whether contributes NSP in SVZ after and,...
Next-generation sequencing has implicated some risk variants for human spina bifida (SB), but the genome-wide contribution of structural variation to this complex genetic disorder remains largely unknown. We examined copy-number variant (CNV) participation in architecture underlying SB risk.A high-confidence ensemble approach genome sequences (GS) was benchmarked and employed systematic detection common rare CNVs two separate ancestry-matched case-control cohorts.SB cases were enriched with...
Significance Genetic investigations of most structural birth defects, including spina bifida (SB), congenital heart disease, and craniofacial anomalies, have been underpowered for genome-wide association studies because their rarity, genetic heterogeneity, incomplete penetrance, environmental influences. Our systems biology strategy to investigate SB predisposition controls population stratification avoids much the bias inherent in candidate gene searches that are pervasive field. We examine...
Orofacial clefts, including cleft lip and palate (CL/P) neural tube defects (NTDs) are among the most common congenital anomalies, but knowledge of genetic basis these conditions remains incomplete. The extent to which risk factors shared between CL/P, NTDs related anomalies is also unclear. While identification causative genes has largely focused on coding loss function mutations, it hypothesized that regulatory mutations account for a portion unidentified heritability. We found excess...
A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed seven Genome in a Bottle (GIAB) samples. However reliable large indels and structural (SVs) is more challenging. In this study, we manually curated 1235 SVs, which can ultimately be used evaluate SV callers or train machine learning models. We crowdsourcing app—SVCurator—to help GIAB curators review SVs within human genome, report their genotype size accuracy. SVCurator displays...
Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of genomic networks and molecular pathways govern neurulation. This study aims delineate genome-wide regulatory signatures underlying pathophysiology. An untargeted, approach was used interrogate regions for rare single-nucleotide copy-number variants (rSNVs rCNVs, respectively) predicted affect gene...
Abstract A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed seven Genome in a Bottle (GIAB) samples. However reliable large indels and structural (SVs) is yet be defined. In this study, we manually curated 1235 SVs which can ultimately used evaluate SV callers or train machine learning models. We crowdsourcing app – SVCurator help curators review within human genome, report their genotype size accuracy. Python Flask-based web...
Identifying transcriptional signatures in Multiple Sclerosis (MS) that may predispose female-biased disease presentation.
Abstract The cellular mechanisms of Autism Spectrum Disorder (ASD) are poorly understood. Cumulative evidence suggests that abnormal synapse function underlies many features this disease. Astrocytes play in several key neuronal processes, including the formation synapses and modulation synaptic plasticity. Astrocyte abnormalities have also been identified postmortem brain tissue ASD patients. However, it remains unclear whether astrocyte pathology plays a mechanistic role ASD, as opposed to...
Abstract Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an estimated 70% of cases. Nevertheless, identifying human mutations conferring risk challenging due its relative rarity, heterogeneity, incomplete penetrance environmental influences that hamper GWAS approaches untargeted discovery. Thus, studies may suffer from population substructure and/or selection bias...