Large germline deletions and duplication in isolated cerebral cavernous malformation patients

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

Sophie Laberge, Hans H. Jung, Pierre Labauge et al. · Nature Genetics · 1999 · 477 citations

Genetics, Vascular Malformation, Pathology +3

Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations

Françoise Bergametti, Christian Denier, Pierre Labauge et al. · The American Journal of Human Genetics · 2004 · 444 citations · Full text

Neurology, Neuropathology, Medicine +2

Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families

Pierre Labauge, Sophie Laberge, L. Brunereau et al. · The Lancet · 1998 · 267 citations

Genetic Features, Neurology, Vascular Malformation +1

Genotype–phenotype correlations in cerebral cavernous malformations patients

Christian Denier, Pierre Labauge, Françoise Bergametti et al. · Annals of Neurology · 2006 · 264 citations