Silvia De Rubeis
A5083293119- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- RNA modifications and cancer
- RNA Research and Splicing
- Chromosomal and Genetic Variations
- Genetic Associations and Epidemiology
- RNA and protein synthesis mechanisms
- Single-cell and spatial transcriptomics
- Epigenetics and DNA Methylation
- Endoplasmic Reticulum Stress and Disease
- Obsessive-Compulsive Spectrum Disorders
- Cell Image Analysis Techniques
- Ubiquitin and proteasome pathways
- Virology and Viral Diseases
- Neuroscience and Neuropharmacology Research
- Congenital limb and hand anomalies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Connective tissue disorders research
- CRISPR and Genetic Engineering
- Genetic factors in colorectal cancer
- Neurogenesis and neuroplasticity mechanisms
- Plant Reproductive Biology
Icahn School of Medicine at Mount Sinai
2015-2025
Child Health and Development Institute
2018-2025
Allen Institute for Brain Science
2020-2025
University of Wisconsin–Madison
2023
Pediatrics and Genetics
2023
University of Bologna
2022
University of Verona
2022
University of Turin
2022
Genomics (United Kingdom)
2016-2021
Mount Sinai Health System
2018-2019
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful novel genes, based on independent de loss-of-function (LoF) falling in the same gene, found that LoF occurred at twofold higher rate than expected by chance. However successful these were, they used only small fraction data, excluding other types inherited rare...
The CYFIP1/SRA1 gene is located in a chromosomal region linked to various neurological disorders, including intellectual disability, autism, and schizophrenia. CYFIP1 plays dual role two apparently unrelated processes, inhibiting local protein synthesis favoring actin remodeling. Here, we show that brain-derived neurotrophic factor (BDNF)-driven synaptic signaling releases from the translational inhibitory complex, triggering translation of target mRNAs shifting into WAVE regulatory complex....
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in has increased recent years due large-scale sequencing studies, systematic studies describing phenotype individuals harboring such lacking. We provide detailed clinical genetic data on 17...
ABSTRACT Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 intra-telencephalic neurons. We have recently reported balance CTIP2-expressing is altered in a mouse model DDX3X syndrome, female-biased neurodevelopmental disorder associated with intellectual disability, autism...
Highlights•Recurrent de novo variants identify a new high-confidence TD risk gene: CELSR3•Genes involved in cell polarity are more likely to be disrupted by variants•De sequence may carry simplex families, female probands•De CNVs occur 2 3 times often probands than matched controlsSummaryWe previously established the contribution of damaging Tourette disorder (TD) through whole-exome sequencing 511 trios. Here, we an additional 291 trios and analyze combined set 802 We observe...
Abstract Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% children. Common genetic variants contribute substantially to ASD susceptibility, but date no individual have been robustly associated with ASD. With marked sample size increase from unique Danish population resource, we report genome-wide association meta-analysis 18,381 cases 27,969 controls that identifies five significant loci. Leveraging GWAS...
Abstract Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a substantial fraction of remain unexplained. We hypothesize that some cases ND–CA caused by aberrant DNA methylation leading dysregulated genome function. Comparing profiles from 489 individuals with ND–CAs against 1534 controls, we identify epivariations frequent occurrence the genome. De...
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics Autism Latin American Ancestries Consortium (GALA) was formed,...
Previous research indicates that the GABAAergic system is involved in pathophysiology of fragile X syndrome, a frequent form inherited intellectual disability and associated with autism spectrum disorder. However, molecular mechanism underlying deficits has remained largely unknown. Here, we demonstrate reduced mRNA expression GABAA receptor subunits cortex cerebellum young Fmr1 knockout mice. In addition, show previously reported underexpression specific can be corrected YAC transgenic...
Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying mutations and deletions have described presence autism spectrum (ASD) traits, intellectual disability, language impairment, psychiatric features. The goal present study was comprehensively characterize genetic clinical This is first prospectively examine genotype-phenotype relationship multiple with syndrome, using battery...