Ming Qi

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Novel loci and pathways significantly associated with longevity

Yi Zeng, Chao Nie, Junxia Min et al. · Scientific Reports · 2016 · 202 citations · Full text

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Xuan Shang, Zhiyu Peng, Yuhua Ye et al. · EBioMedicine · 2017 · 195 citations · Full text

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

Yee Him Cheung, Tenzin Gayden, Philippe M. Campeau et al. · The American Journal of Human Genetics · 2013 · 167 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +3

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei-Wen Chiang, Juan Wang, Yang Chen et al. · Nature Genetics · 2012 · 140 citations

Identifies Nmnat1 Mutations, Developmental Biology, Mendelian Disorder +9