Chun‐An Chen

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell et al. · Cell · 2018 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga‐Jauregui et al. · The American Journal of Human Genetics · 2014 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen et al. · eLife · 2015 · 82 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Xia Wang, Wu‐Lin Charng, Chun‐An Chen et al. · Nature Genetics · 2017 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Site-Specific S-Glutathiolation of Mitochondrial NADH Ubiquinone Reductase

Chwen-Lih Chen, Liwen Zhang, Alexander Yeh et al. · Biochemistry · 2007 · 70 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17