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Elizabeth Bhoj | doi.page

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Elizabeth Bhoj

Children's Hospital of Philadelphia(US)University of Pennsylvania(US)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Congenital heart defects research

Most-Cited Works

→ ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor(2019)216 cited
→ De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
→ MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus(2008)141 cited
→ Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome(2019)125 cited
→ Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure(2015)120 cited
→ Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network(2019)115 cited

→ Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly(2018)

99 cited

→ Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq(2020)97 cited

→ De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions(2016)92 cited

→ Automated Clinical Exome Reanalysis Reveals Novel Diagnoses(2018)88 cited