Elizabeth Bhoj

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

Dong Li, Michael March, Álvaro Gutiérrez-Uzquiza et al. · Nature Medicine · 2019 · 219 citations

Medicine, Cell Biology, Molecular Medicine +11

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus

Vijay Bhoj, Qinmiao Sun, Elizabeth Bhoj et al. · Proceedings of the National Academy of Sciences · 2008 · 141 citations · Full text

Life Sciences, Immunology, Infectious Diseases +17

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman et al. · Clinical Epigenetics · 2019 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo et al. · Genetics in Medicine · 2015 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16