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F. Silbermann · SciRah

Researcher profile · Semantic Scholar

F. Silbermann

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F. Silbermann — researcher profile on SciRah

h-index: 20
Works: 30
Citations: 2,418

Most-cited papers

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
M. Delous, L. Baala, R. Salomon, C. Laclef +33 more
2007Nature Genetics501 citations
Semantic Scholar
The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia
Anahi Molla-Herman, R. Ghossoub, T. Blisnick, A. Meunier +10 more
2010Journal of Cell Science299 citations
Semantic Scholar
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
G. Mollet, F. Silbermann, M. Delous, R. Salomon +2 more
2005Human Molecular Genetics173 citations
Semantic Scholar
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.
S. Saunier, J. Calado, R. Heilig, F. Silbermann +7 more
1997Human Molecular Genetics148 citations
Semantic Scholar
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.
M. Konrad, S. Saunier, L. Heidet, F. Silbermann +6 more
1996Human Molecular Genetics136 citations
Semantic Scholar
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
G. Mollet, R. Salomon, O. Gribouval, F. Silbermann +7 more
2002Nature Genetics132 citations Open access
Semantic Scholar
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
S. Saunier, Joaquim Calado, France Benessy, F. Silbermann +3 more
2000American Journal of Human Genetics130 citations Open access
Semantic Scholar
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6
M. Delous, N. E. Hellman, Hélori-Mael Gaudé, F. Silbermann +4 more
2009Human Molecular Genetics114 citations Open access
Semantic Scholar
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
G. Mollet, R. Salomon, O. Gribouval, F. Silbermann +7 more
2002Nature Genetics107 citations
Semantic Scholar
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Evelyne Huynh Cong, A. Bizet, O. Boyer, Stephanie L. Woerner +20 more
2014Journal of the American Society of Nephrology103 citations Open access
Semantic Scholar
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Camille Humbert, F. Silbermann, B. Morar, M. Parisot +17 more
2014American Journal of Human Genetics96 citations Open access
Semantic Scholar
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
L. De Tomasi, P. David, Camille Humbert, F. Silbermann +27 more
2017American Journal of Human Genetics92 citations Open access
Semantic Scholar
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
V. Grampa, M. Delous, M. Zaidan, Gweltas Odye +23 more
2016PLoS Genetics86 citations Open access
Semantic Scholar
Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
A. Mahuzier, Hélori-Mael Gaudé, V. Grampa, I. Anselme +8 more
2012Journal of Cell Biology74 citations Open access
Semantic Scholar
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
Céline Burcklé, Hélori-Mael Gaudé, C. Vesque, F. Silbermann +5 more
2011Human Molecular Genetics68 citations Open access
Semantic Scholar
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies
Hugo Briceño Garcia, Alice S Serafin, F. Silbermann, Esther Porée +25 more
2022Proceedings of the National Academy of Sciences of the United States of America32 citations Open access
Semantic Scholar
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Maxence S Macia, J. Halbritter, M. Delous, C. Bredrup +32 more
2017American Journal of Human Genetics27 citations Open access
Semantic Scholar
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Maxence S Macia, J. Halbritter, M. Delous, C. Bredrup +32 more
2017American Journal of Human Genetics27 citations Open access
Semantic Scholar
Post-transcriptional regulation of transferrin receptor mRNA by IFN gamma.
M. Bourgeade, F. Silbermann, L. Kühn, U. Testa +4 more
1992Nucleic Acids Research23 citations Open access
Semantic Scholar
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Simon A. Ramsbottom, P. Thelwall, K. Wood, G. Clowry +11 more
2019Proceedings of the National Academy of Sciences of the United States of America22 citations Open access
Semantic Scholar
The renal inflammatory network of nephronophthisis
M. Quatredeniers, F. Bienaimé, G. Ferri, P. Isnard +12 more
2021bioRxiv7 citations Open access
Semantic Scholar
The renal inflammatory network of nephronophthisis.
M. Quatredeniers, F. Bienaimé, G. Ferri, Pierre Isnard +13 more
2022Human Molecular Genetics5 citations Open access
Semantic Scholar
Erratum: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011))
Maxence S Macia, J. Halbritter, M. Delous, C. Bredrup +32 more
20175 citations Open access
Semantic Scholar
Dishevelled stabilization by the ciliopathy protein Rpgrip 1 l is essential for planar cell polarity
A. Mahuzier, Hélori-Mael Gaudé, V. Grampa, I. Anselme +8 more
20125 citations
Semantic Scholar
Vers l'identification du gène de la néphronophtise
S. Saunier, F. Silbermann, F. Benessy, C. Antignac +1 more
19973 citations
Semantic Scholar
The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of NPHP1 ciliopathy-gene transcripts
A. Mahuzier, Gweltas Odye, V. Grampa, A. Bizet +24 more
2024bioRxiv1 citations Open access
Semantic Scholar
Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity
S. Schneider-Maunoury, A. Mahuzier, HM Gaudé, I. Anselme +5 more
2012Cilia1 citations Open access
Semantic Scholar
Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies
H. Garcia, Alice Serafin, F. Silbermann, Esther Porée +25 more
2022bioRxiv0 citations Open access
Semantic Scholar
A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects
V. Grampa, M. Delous, F. Silbermann, G. Oyde +12 more
2015Cilia0 citations Open access
Semantic Scholar
Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases
S. Saunier, Hélori-Mael Gaudé, R. Montjean, F. Silbermann +9 more
2012Cilia0 citations Open access
Semantic Scholar

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