Christine Barnérias

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 438 citations

Life Sciences, Genetics, Molecular Genetics +16

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

Mathieu P. Rodero, Jérémie Decalf, Vincent Bondet et al. · The Journal of Experimental Medicine · 2017 · 376 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson et al. · Human Molecular Genetics · 2010 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 260 citations · Full text

Medicine, Cardiology, Internal Medicine +15