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 · 213 citations

Lymphoid Neoplasia, Autoimmune Disease, Immunodeficiencies +13

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 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

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 · 140 citations · Full text

Inflammation, Lung Inflammation, Medicine +15

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 · 123 citations · Full text

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 · 119 citations · Full text

Developmental Anomaly, Chromatin, Infertility +14