James T. Lu

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu et al. · The American Journal of Human Genetics · 2013 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau, Jaeseung Kim, James T. Lu et al. · The American Journal of Human Genetics · 2012 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Thin collagen film scaffolds for retinal epithelial cell culture

James T. Lu, Christina J. Lee, Stacey F. Bent et al. · Biomaterials · 2006 · 115 citations

Engineering, Biomedical Engineering, Cell Biology +14

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang et al. · Journal of Clinical Investigation · 2017 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Chaya N. Murali, James T. Lu, Mahim Jain et al. · Molecular Genetics and Metabolism Reports · 2014 · 22 citations · Full text

Medicine, Genetics, Molecular Genetics +17