Joseph G. Gleeson

NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs

Shobbir Hussain, Abdulrahim A. Sajini, Sandra Blanco et al. · Cell Reports · 2013 · 606 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

Life Sciences, Genetics, Neuroscience +17

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 391 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hülya Kayserili et al. · Science · 2012 · 312 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh et al. · The American Journal of Human Genetics · 2004 · 292 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13