A5048307840- Autism Spectrum Disorder Research
- Recycling and Waste Management Techniques
- Genetics and Neurodevelopmental Disorders
- Soil Mechanics and Vehicle Dynamics
- Material Properties and Processing
- Chromosomal and Genetic Variations
- Obsessive-Compulsive Spectrum Disorders
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Plant Virus Research Studies
- Plant Reproductive Biology
- Microtubule and mitosis dynamics
- Hereditary Neurological Disorders
- Cell Image Analysis Techniques
- Single-cell and spatial transcriptomics
- Pluripotent Stem Cells Research
- Neurogenesis and neuroplasticity mechanisms
- Williams Syndrome Research
- Bioinformatics and Genomic Networks
- CRISPR and Genetic Engineering
- Trypanosoma species research and implications
University of California, San Francisco
2018-2024
Rutgers, The State University of New Jersey
2016-2020
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 Gene ontology analyses of high-confidence autism spectrum disorder (ASD) risk genes highlight chromatin regulation and synaptic function as major contributors to pathobiology. Our recent functional work in vivo has additionally implicated tubulin biology cellular proliferation. As many regulators, including the ASD ADNP CHD3, are known directly regulate both tubulins histones, we studied five regulators most strongly associated with (ADNP, CHD8, CHD2, POGZ KMT5B) specifically...
Summary Translating high-confidence (hc) autism spectrum disorder (ASD) genes into viable treatment targets remains elusive. We constructed a foundational protein-protein interaction (PPI) network in HEK293T cells involving 100 hcASD risk genes, revealing over 1,800 PPIs (87% novel). Interactors, expressed the human brain and enriched for ASD but not schizophrenia genetic risk, converged on protein complexes involved neurogenesis, tubulin biology, transcriptional regulation, chromatin...
Abstract Autism spectrum disorder (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity (ADHD) display strong male sex bias, due to a combination of genetic biological factors, as well selective ascertainment. While the hemizygous nature chromosome X (Chr X) in males has long been postulated key point “male vulnerability”, rare variation on this not systematically characterized large-scale whole exome sequencing studies “idiopathic” ASD, TS, ADHD. Here, we take advantage...
Tourette Disorder (TD) is a childhood-onset neuropsychiatric and neurodevelopmental disorder characterized by the presence of both motor vocal tics. The genetic architecture TD believed to be complex heterogeneous. Nevertheless, DNA sequence variants co-segregating with phenotypes within multiplex families have been identified. This report examines whole exomes affected unaffected individuals in family discover genes involved etiology. We performed exome sequencing on six out nine members...
Summary Recent studies have identified over one hundred high-confidence (hc) autism spectrum disorder (ASD) genes. Systems biological and functional analyses on smaller subsets of these genes consistently implicated excitatory neurogenesis. However, the extent to which broader set hcASD are involved in this process has not been explored systematically nor pathways underlying convergence identified. Here, we leveraged CROP-Seq repress 87 a human vitro model cortical We 17 whose repression...
ABSTRACT Autism spectrum disorder (ASD) commonly co-occurs with congenital heart disease (CHD), but the molecular mechanisms underlying this comorbidity remain unknown. Given that children CHD come to clinical attention by newborn period, understanding which variants carry ASD risk could provide an opportunity identify and treat individuals at high for developing far before typical age of diagnosis. Therefore, it is critical delineate subset genes most likely increase ASD. However, date...
Abstract Background Mobile elements are ubiquitous components of mammalian genomes and constitute more than half the human genome. Polymorphic mobile element insertions (pMEIs) a major source genomic variation gaining research interest because their involvement in gene expression regulation, genome integrity, disease. Results Building on our previous Element Scanning (ME-Scan) protocols, we developed an integrated ME-Scan protocol to identify three active families elements, Alu Yb, L1HS,...
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We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole exome sequencing 511 trios. Here, we an additional 291 TD trios and analyze combined set 802 observe overrepresentation in simplex but not multiplex families; identify two new high confidence risk genes, CELSR3 (Cadherin EGF LAG Seven-Pass G-Type Receptor 3) OPA1 (Mitochondrial Dynamin-Like GTPase); find that genes mutated patients are enriched for those related cell...
ABSTRACT Autism spectrum disorders (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity disorder (ADHD) display strong male sex bias, due to a combination of genetic biological factors, as well selective ascertainment. While the hemizygous nature chromosome X (Chr X) in males has long been postulated key point “male vulnerability”, rare variation on this not systematically characterized large-scale whole exome sequencing studies “idiopathic” ASD, TS, ADHD. Here, we take...
ABSTRACT Gene ontology analyses of high confidence autism spectrum disorder (hcASD) risk genes have historically highlighted chromatin regulation and synaptic function as major contributors to pathobiology. Our recent functional work in vivo has additionally implicated microtubule biology identified disrupted cellular proliferation a convergent ASD phenotype. As many regulators, including ADNP CHD3 , are known directly regulate both tubulins histones, we studied the five regulators most...