Concepedia

Sophie Saunier

SS

Statistics

Publications

70

Citations

8.4K

H-Index

49

Active since

1995

Affiliations

Inserm(Current)

Université Paris Cité

Hôpital Necker-Enfants Malades

Assistance Publique – Hôpitaux de Paris

Délégation Paris 5

Sophie Saunier is an author at Inserm specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1995–2024

70

Publications

70

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

, , +10

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 391 citations · Full text

, , +16

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu et al. · Nature Genetics · 2011 · 379 citations · Full text

, , +5

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik et al. · Nature Genetics · 2010 · 318 citations · Full text

, , +8

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

Anahi Molla‐Herman, Rania Ghossoub, Thierry Blisnick et al. · Journal of Cell Science · 2010 · 302 citations

, , +17

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