Elizabeth Bhoj
A5091497415- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- Connective tissue disorders research
- Metabolism and Genetic Disorders
- Genomics and Chromatin Dynamics
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Congenital Ear and Nasal Anomalies
- Chromatin Remodeling and Cancer
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Cancer-related gene regulation
- dental development and anomalies
- Biochemical and Molecular Research
- Neurological diseases and metabolism
- Protein Tyrosine Phosphatases
- Renal and related cancers
- Cellular transport and secretion
Children's Hospital of Philadelphia
2016-2025
University of Pennsylvania
2019-2025
University of Wisconsin–Madison
2022
National Institute of Health
2020
Genomics (United Kingdom)
2019
Philadelphia University
2018
Pediatrics and Genetics
2017
Seattle Children's Hospital
2014
The University of Texas Southwestern Medical Center
2008-2011
Infection by RNA viruses is detected the host through Toll-like receptors or RIG-I-like receptors. and signal adaptors MyD88 MAVS, respectively, to induce type I IFNs (IFN-I) other antiviral molecules, which are thought be essential for activating adaptive immune system. We investigated role of these in innate responses against respiratory syncytial virus (RSV), a common human pathogen. Deletion Mavs abolished induction IFN-I proinflammatory cytokines RSV. Genome-wide expression profiling...
ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It caused truncating mutations in ADNP, which involved chromatin regulation. We hypothesized that the disruption of regulation might result specific DNA methylation patterns could be used molecular diagnosis syndrome. identified two distinct partially opposing genomic episignatures peripheral blood samples from 22 patients with The "epi-ADNP-1" episignature included ~...
Central conducting lymphatic anomaly (CCLA) is one of the complex anomalies characterized by dilated channels, channel dysmotility and distal obstruction affecting drainage. We performed whole exome sequencing (WES) DNA from a four-generation pedigree examined consequences variant transfection mammalian cells morpholino rescue studies in zebrafish. WES revealed heterozygous mutation EPHB4 (RefSeq NM_004444.4; c.2334 + 1G>C) RNA-Seq demonstrated that destroys normal donor site, which leads to...
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery novel gene-disease and variant-disease associations are expected increase the CES. Performing systematic reanalysis previously nondiagnostic CES samples represents significant challenge laboratories. Here, we present results automated methodology applied 300 initially analyzed between June 2014 September 2016. Application our reduced variant analysis burden by...
Abstract Elucidating the function of highly conserved regulatory sequences is a significant challenge in genomics today. Certain intragenic elements have been associated with regulating levels core components spliceosome and alternative splicing downstream genes. Here we identify mutations one such element, exon SNRPB as cause cerebro–costo–mandibular syndrome. This contains premature termination codon that triggers nonsense-mediated mRNA decay when included transcript. These increased...
Abstract Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized intellectual disability hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical molecular spectrum diverse populations, identify physical features that may be more prevalent White versus Black Indigenous People Color individuals, delineate genotype–phenotype...
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, facial dysmorphism. Here, we present a cohort individuals with clinical features distinct from FLHS truncating (mostly de novo) SRCAP either proximal (n = 28) or distal 5) to locus. Detailed characterization identified shared characteristics: developmental delay without...
Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) are the most frequent, recurrent monogenic of cerebral palsy (CP). We investigated range clinical phenotypes owing to disruptions determine association between NEDSDV CP.Genetic information from 404 individuals collectively 392 pathogenic were ascertained for study. From these, detailed 52 previously unpublished collected combined 68 published...
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of expression myelin‐related genes. However, it highly expressed in human tissues and mouse embryonic outside nervous system such as stomach, lung, small intestine. It not reported cause any Mendelian disease. We report here two males Scimitar syndrome [MIM 106700], other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital...
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 PRPF19, encoding spliceosome subunits neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo missense (including seven recurrent 30 individuals) six PRPF19 variants. Eight dysregulated model substrate....