A5073039943- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Chromosomal and Genetic Variations
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Genomics and Phylogenetic Studies
- Prenatal Screening and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Chromatin Dynamics
- Tumors and Oncological Cases
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Down syndrome and intellectual disability research
- Robot Manipulation and Learning
- Sexual Differentiation and Disorders
- Nutrition, Genetics, and Disease
- Wildlife Ecology and Conservation
- Glycosylation and Glycoproteins Research
- Dementia and Cognitive Impairment Research
- Australian Indigenous Culture and History
Mass General Brigham
2025
Child Health and Development Institute
2013-2024
Icahn School of Medicine at Mount Sinai
2015-2024
Mount Sinai Hospital
2024
University Hospitals of Leicester NHS Trust
2020-2023
Chester County Historical Society
2023
Harvard University
2022
University of Georgia
2022
University of Colorado Denver
2022
Cornell University
2022
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances technologies detect these changes allow for routine identification of submicroscopic imbalances large numbers patients.
X-chromosome inactivation (XCI) is a dosage compensation mechanism that silences the majority of genes on one X chromosome in each female cell. To characterize epigenetic changes accompany this process, we measured DNA methylation levels 45,X patients carrying single active (X ), and normal females, who carry inactive i ). Methylated was immunoprecipitated hybridized to high-density oligonucleotide arrays covering chromosome, generating profiles chromosomes. We observed XCI accompanied by...
<h3>Background:</h3> Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints associated mild to moderate mental retardation epilepsy. <h3>Methods:</h3> To assess further the clinical implications of this novel microdeletion syndrome, 18 new probands a deletion molecularly clinically characterised. In addition, we evaluated characteristics family more between BP3 BP4. Finally, four patients duplication in BP3–BP4–BP5 region included...
DNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, the dynamics of changes between humans their closest relatives are still poorly understood. We performed a comparative analysis CpG patterns 9 23 primate samples including all species great apes (chimpanzee, bonobo, gorilla orangutan) using Illumina Methylation450 bead...
Alzheimer's disease affects ~13 % of people in the United States 65 years and older, making it most common neurodegenerative disorder. Recent work has identified roles for environmental, genetic, epigenetic factors risk. We performed a genome-wide screen DNA methylation using Illumina Infinium HumanMethylation450 platform on bulk tissue samples from superior temporal gyrus patients with non-demented controls. paired sliding window approach multivariate linear regression to characterize...
As AI models continue to advance into many real-life applications, their ability maintain reliable quality over time becomes increasingly important. The principal challenge in this task stems from the very nature of current machine learning models, dependent on data as it was at training. In study, we present first analysis "aging": complex, multifaceted phenomenon model degradation more passes since last training cycle. Using datasets four different industries (healthcare operations,...
Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16.A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC CGH identified five deletions and apparently reciprocal duplications 16p13 covering 1.65 Mb,...
Down syndrome (DS) is the most frequent genetic disorder leading to intellectual disabilities and caused by three copies of human chromosome 21. Mouse models are widely used better understand physiopathology in DS or test new therapeutic approaches. The older mouse trisomic Ts65Dn Ts1Cje mice. They display deficits similar those observed people, such as behavior cognition neuronal abnormalities. model currently for further assessment candidate drugs. In both models, trisomy was induced...
<h3>Background:</h3> The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. <h3>Aim:</h3> We report the molecular and/or clinical characterisation of 22 individuals syndrome. <h3>Results:</h3> estimate prevalence to be 1 16 000 and show it highly underdiagnosed. Extensive examination reveals developmental delay, hypotonia, facial dysmorphisms...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution analysis showed that three patients both proximal distal breakpoints co-localized to highly identical segmental duplications (>51 kb length, > 94% identity), suggesting non-allelic homologous recombination as the likely mechanism origin. Sequencing studies a fourth individual provided base pair resolution this case were located unique...
Drug exposure during critical periods of development is known to have lasting effects, increasing one's risk for developing mental health disorders. Emerging evidence has also indicated the possibility drug even impact subsequent generations. Our previous work demonstrated that adolescent Δ9-tetrahydrocannabinol (THC), main psychoactive component marijuana (Cannabis sativa), in a Long-Evans rat model affects reward-related behavior and gene regulation (F1) generation unexposed drug....
Despite representing an important source of genetic variation, tandem repeats (TRs) remain poorly studied due to technical difficulties. We hypothesized that TRs can operate as expression (eQTLs) and methylation (mQTLs) quantitative trait loci. To test this we analyzed the effect variation at 4849 promoter-associated TRs, genotyped in 120 individuals, on neighboring gene DNA methylation. Polymorphic promoter were associated with increased variance local methylation, suggesting functional...