Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.1K citations · Full text

Dna Sequencing, Sequencing, Medicine +14

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

Taichi Hara, Kenji Nakamura, Makoto Matsui et al. · Nature · 2006 · 3.8K citations

Neural Cells, Cell Autophagy, Neurodegenerative Diseases +12

Loss of autophagy in the central nervous system causes neurodegeneration in mice

Masaaki Komatsu, Satoshi Waguri, Tomoki Chiba et al. · Nature · 2006 · 3.4K citations

Cell Autophagy, Neurodegenerative Diseases, Mitophagy +12

A more efficient method to generate integration-free human iPS cells

Keisuke Okita, Yasuko Matsumura, Yoshiko Sato et al. · Nature Methods · 2011 · 2K citations

Human Cell, Induced Pluripotent Stem Cell, Engineering +11

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

Maria C. Marchetto, Cassiano Carromeu, Allan Acab et al. · Cell · 2010 · 1.3K citations · Full text

Regenerative Medicine, Induced Pluripotent Stem Cell, Developmental Biology +11