Andreas G. Chiocchetti
A5087026158- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Congenital heart defects research
- Child and Adolescent Psychosocial and Emotional Development
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Attention Deficit Hyperactivity Disorder
- RNA modifications and cancer
- Neuroendocrine regulation and behavior
- MicroRNA in disease regulation
- RNA and protein synthesis mechanisms
- Cancer-related gene regulation
- Stress Responses and Cortisol
- Ubiquitin and proteasome pathways
- Adolescent and Pediatric Healthcare
- Epilepsy research and treatment
- Bipolar Disorder and Treatment
- Cancer-related molecular mechanisms research
- Immune Cell Function and Interaction
- Pluripotent Stem Cells Research
- Fungal and yeast genetics research
- Extracellular vesicles in disease
Goethe University Frankfurt
2016-2025
University Hospital Frankfurt
2014-2025
Nagoya University
2022
University of British Columbia
2017
University of California, Davis
2017
Universidad de Salamanca
2017
Hussman Institute for Autism
2017
University of California, San Francisco
2017
University of California, Los Angeles
2017
Center for Neurosciences
2017
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed excess genic deletions duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) increase subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD intellectual disability (odds ratio 12.62, 2.7 10(-15), ∼3% subjects). Pathogenic CNVs, often showing variable expressivity,...
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental with complex inheritance pattern. While many rare variants in synaptic proteins have been identified patients ASD, little is known about their effects at the synapse and interactions other genetic variations. Here, following discovery two de novo SHANK2 deletions by Genome Project, we novel 421 kb deletion patient autism. We then sequenced 455 ASD 431 controls integrated these results those reported Berkel et al....
Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 single nucleotide polymorphism (SNP) association a microdeletion in an affected sibling pair.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, which accompanied by differences in gray matter neuroanatomy and white connectivity. However, it unknown whether these are linked or reflect independent aetiologies. Using multimodal neuroimaging approach, we therefore examined 51 male adults with ASD 48 neurotypical controls to investigate the relationship between local gyrification (lGI) diffusivity associated fiber tracts. First, individuals had significant increase...
Summary We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies disruptive variants in individuals ascertained for severe neurodevelopmental delay, while 53 ASD; comparing ASD cases mutations groups reveals phenotypic differences....
Objective: Autism spectrum disorder (ASD) is accompanied by highly individualized neuroanatomical deviations that potentially map onto distinct genotypes and clinical phenotypes. This study aimed to link differences in brain anatomy specific biological pathways pave the way toward targeted therapeutic interventions. Methods: The authors examined neurodevelopmental cortical thickness their genomic underpinnings a large clinically diverse sample of 360 individuals with ASD 279 typically...
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful target large gene families drug binding sites. Here we search family interaction (GFINs) in 6,742 patients ASDs relative to 12,544 neurologically normal controls, find potentially druggable targets. We significant enrichment structural defects (P ≤...
A high incidence of thromboembolic events associated with mortality has been reported in severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) infections failure. The present study characterized post-transcriptional gene regulation by global microRNA (miRNA) expression relation to activated coagulation and inflammation 21 critically ill SARS-CoV-2 patients. cohort consisted patients moderate failure (n = 11) 10) at an stage (day 0-3) the later course disease (>7 days). All needed...
Abstract Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders, affecting ∼5.3 % children, with symptoms including hyperactivity, inattention and impulsivity. Moreover, ADHD persists into adulthood in ∼50 cases, significantly quality life. Currently, complex aetiology remains unclear, although it has been shown that a highly heritable disorder. Single nucleotide polymorphisms (SNPs) adhesion G protein-coupled receptor isoform L3 gene ( ADGRL3...