Concepedia

Philippe Parent

PP

Statistics

Publications

26

Citations

2.4K

H-Index

21

Active since

1988

Affiliations

Centre Hospitalier Régional Universitaire de Brest(Current)

Inserm

Hôpital Necker-Enfants Malades

Génétique, Génomique Fonctionnelle et Biotechnologies

Assistance Publique – Hôpitaux de Paris

Philippe Parent is an author at Centre Hospitalier Régional Universitaire de Brest specializing in genetics, life sciences, and molecular genetics.

Publications per year

1988–2017

26

Publications

26

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 498 citations

, , +12

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier H. Jaglin, Karine Poirier, Yoann Saillour et al. · Nature Genetics · 2009 · 372 citations · Full text

, , +12

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jéléna Martinovic et al. · The American Journal of Human Genetics · 2007 · 282 citations · Full text

, , +7

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

, , +12

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Virginie Scotet, Marc De Braekeleer, Michel Roussey et al. · The Lancet · 2000 · 111 citations

, , +16

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