Michael Gonzalez

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch et al. · Nature Genetics · 2015 · 275 citations · Full text

Medicine, Genetics, Molecular Genetics +14

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço et al. · Brain · 2013 · 226 citations · Full text

Life Sciences, Genetics, Neurology +17

Gap Junctional Coupling and Patterns of Connexin Expression among Neonatal Rat Lumbar Spinal Motor Neurons

Qiang Chang, Michael Gonzalez, Martin J. Pinter et al. · Journal of Neuroscience · 1999 · 221 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11