Concepedia
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Publications
13
Citations
1.6K
H-Index
Active since
2011
Affiliations
Inserm(Current)
Université Paris Cité
Délégation Paris 5
Sorbonne Paris Cité
Institut des Maladies Génétiques Imagine
Emilie Filhol is an author at Inserm specializing in genetics, genetic disorders, and molecular genetics.
Publications per year
2011–2023
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 237 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Jan Halbritter, Albane A. Bizet, Miriam Schmidts et al. · The American Journal of Human Genetics · 2013 · 231 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 217 citations · Full text
Life Sciences, Genetics, Molecular Genetics +3
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Sylvia Hoff, Jan Halbritter, Daniel Epting et al. · Nature Genetics · 2013 · 200 citations · Full text
Life Sciences, Molecular Biology, Molecular Genetics +3
A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre et al. · Human Mutation · 2013 · 128 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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