Charlly Kao

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Miguel Verbitsky, Rik Westland, Alejandra Perez et al. · Nature Genetics · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

Dong Li, Tara Wenger, Christoph Seiler et al. · Human Molecular Genetics · 2018 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling

Josephine Elia, Grace Ungal, Charlly Kao et al. · Nature Communications · 2017 · 94 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +16

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Joseph Glessner, Bradley P. Coe, Jin Li et al. · Nature Communications · 2020 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17