Vincent Laugel

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

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

Wim J. Kleijer, Vincent Laugel, Mark Berneburg et al. · DNA repair · 2008 · 271 citations

Life Sciences, Dermatology, Genetics +14

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

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

Anna Buj-Bello, Vincent Laugel, Nadia Messaddeq et al. · Proceedings of the National Academy of Sciences · 2002 · 223 citations · Full text

Life Sciences, Biochemistry, Genetics +16