Lifeng Tian

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Jason O'Rawe, Tao Jiang, Guangqing Sun et al. · Genome Medicine · 2013 · 457 citations · Full text

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Rong Chen, Lisong Shi, Jörg Hakenberg et al. · Nature Biotechnology · 2016 · 315 citations · Full text

Mendelian Childhood Diseases, Mendelian Disorder, Genetics +11

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

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

John A. Martignetti, Lifeng Tian, Dong Li et al. · The American Journal of Human Genetics · 2013 · 204 citations · Full text

Mendelian Disorder, Genetic Disorder, Pathology +2

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González et al. · The American Journal of Human Genetics · 2016 · 176 citations · Full text

Neurophysiology, Experimental Neuropathology, Neuropharmacology +6