Nicole Laurent

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus et al. · Nature Genetics · 2005 · 289 citations

Medicine, Genetics, Molecular Genetics +14

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour et al. · The American Journal of Human Genetics · 2006 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 192 citations

Medicine, Neurology, Neuroscience +17

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle‐Biassette, Pascale Saugier-Véber, Catherine Fallet‐Bianco et al. · Acta Neuropathologica · 2013 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12