Szabolcs Szelinger
A5055277943- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Immunotherapy and Immune Responses
- Epigenetics and DNA Methylation
- Bipolar Disorder and Treatment
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Neuroblastoma Research and Treatments
- BRCA gene mutations in cancer
- Colorectal Cancer Treatments and Studies
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Genomics and Phylogenetic Studies
- RNA regulation and disease
- Neurological diseases and metabolism
- Genetic Mapping and Diversity in Plants and Animals
- Autism Spectrum Disorder Research
- Chromatin Remodeling and Cancer
- Gene expression and cancer classification
- Gastric Cancer Management and Outcomes
- Lung Cancer Research Studies
Translational Genomics Research Institute
2015-2024
Exact Sciences (United States)
2022-2024
College of American Pathologists
2021-2023
EP Analytics (United States)
2021
University of California, Los Angeles
2008-2020
University of Southern California
2020
University of Iowa
2020
Columbia University
2020
Providence Sacred Heart Medical Center
2020
Arizona Research Center
2020
We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability accurately and robustly determine whether individuals are in a complex genomic DNA mixture. first develop theoretical framework for detecting an individual's presence within mixture, then show, through simulations, limits associated with our method, finally experimentally identification of specific series highly mixtures, including mixtures where individual contributes less than 0.1%...
Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by interaction multiple environmental factors and previously unknown genes.We performed a genomewide association analysis using 766,955 single-nucleotide polymorphisms (SNPs) found in 386 white patients ALS 542 neurologically normal controls (the discovery series). Associations SNPs were confirmed two independent replication populations: series 1, 766 case disease 750 controls,...
Significance Bipolar disorder (BD) is a common, severe, and recurrent psychiatric with no known cure substantial morbidity mortality. Heritable causes contribute up to 80% of the lifetime risk for BD. Common genetic variation explains ∼25% this heritable risk. Rare variants may explain additional We identified contributions rare BD by sequencing genomes 200 individuals from 41 families The two main findings study were as follows: enriched in genes pathways that regulate diverse aspects...
Bipolar disorder is a serious and common psychiatric characterized by manic depressive mood switches relapsing remitting course. The cornerstone of clinical management stabilization prophylaxis using mood-stabilizing medications to reduce both symptoms. Lithium remains the gold standard treatment with strongest data for efficacy suicide prevention. However, many patients do not respond this medication, clinically there great need tools aid clinician in selecting correct treatment. Large...
Converging lines of evidence point to the existence immune dysfunction in autism spectrum disorder (ASD), which could directly affect several key neurodevelopmental processes. Previous studies have shown higher cytokine levels patients with compared matched controls or subjects other developmental disorders. In current study, we used plasma-cytokine profiling for 25 discordant sibling pairs evaluate whether these alterations occur within families ASD. Plasma-cytokine was conducted using an...
Abstract Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations ARSs have emerged as cause recessive, often complex neurological disease traits. Here we report an allelic series consisting seven novel and two previously reported biallelic variants valyl-tRNA synthetase ( VARS ) ten patients developmental encephalopathy microcephaly, associated early-onset epilepsy. In silico, vitro, yeast...
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations CAV1, encoding main component caveolae plasma membranes, cause Berardinelli-Seip congenital lipodystrophy type 3 (BSCL). Although BSCL is...
<ns4:p>Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be result of an acquired insult to brain, such prenatal or perinatal brain injury (congenital infection hypoxic ischemic encephalopathy), part genetic syndrome. There are over 1000 conditions listed OMIM (Online Mendelian Inheritance Man) where microcephaly key finding; many these associated...
<ns4:p>Mutations disrupting presynaptic<ns4:italic> </ns4:italic>protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe family segregating autosomal dominant 37-year-old Caucasian female severe phenotype Parkinsonism, psychosis, visual auditory hallucinations, gait ataxia intellectual disability. Whole exome sequencing revealed...
We developed and analytically validated a comprehensive genomic profiling (CGP) assay, GEM ExTra, for patients with advanced solid tumors that uses Next Generation Sequencing (NGS) to characterize whole exomes employing paired tumor-normal subtraction methodology. The assay detects single nucleotide variants (SNV), indels, focal copy number alterations (CNA), TERT promoter region, as well tumor mutation burden (TMB) microsatellite instability (MSI) status. Additionally, the incorporates...
Purpose.: Aicardi syndrome (AIC) is a congenital neurodevelopmental disorder characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. Variation in phenotype disease severity well documented, but lacunae represent most constant pathological feature. believed to be an X-linked–dominant occurring almost exclusively females, although 46, XY males with AIC have been described. The purpose this study identify genetic factors pathways involved AIC. Methods.: We...
Multiple research groups have observed neuropathological phenotypes and molecular symptoms in vitro using induced pluripotent stem cell (iPSC)-derived neural cultures (i.e.patient-specific neurons glia).However, the global differences/similarities that may exist between cells their tissue-derived counterparts remain largely unknown.In this study, we compared temporal series of iPSC-derived to endogenous brain tissue from same autopsy donor.Specifically, utilized RNA sequencing (RNA-Seq)...
We investigated the genome of a 5-year-old male who presented with global developmental delay (motor, cognitive, and speech), hypotonia, possibly ataxia, cerebellar hypoplasia unknown origin. Whole sequencing (WGS) mRNA (RNA-seq) were performed on family having an affected proband, his unaffected parents, maternal grandfather. To explore molecular functional consequences variant, we cell proliferation assays, quantitative real-time PCR (qRT-PCR) array, immunoblotting, calcium imaging,...
Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this is implicated 10p15.3 microdeletion syndrome. We report a novel de novo variant ZMYND11 (p.Ser421Asn) patient neurodevelopmental phenotype. The 24-yr-old Caucasian/Filipino female seizures, global developmental delay, sensorineural hearing loss, hypotonia,...