Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Protein structure prediction on the Web: a case study using the Phyre server

Lawrence A. Kelley, Michael J.E. Sternberg · Nature Protocols · 2009 · 4.2K citations

Life Sciences, Biochemistry, Bioinformatics +8

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De novo SOX11 mutations cause Coffin–Siris syndrome

Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi et al. · Nature Communications · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

Johannes A. Mayr, Franz Zimmermann, Christine Fauth et al. · The American Journal of Human Genetics · 2011 · 137 citations · Full text

Life Sciences, Neurology, Neuroscience +13

Endogenous Production of Lipoic Acid Is Essential for Mouse Development

Xianwen Yi, Nobuyo Maeda · Molecular and Cellular Biology · 2005 · 132 citations · Full text

Life Sciences, Biochemistry, Genetics +16