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S. Saunier · SciRah

Researcher profile · Semantic Scholar

S. Saunier

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S. Saunier — researcher profile on SciRah

h-index: 52
Works: 123
Citations: 8,886

Most-cited papers

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M. Chaki, Rannar Airik, A. Ghosh, R. Giles +71 more
2012Cell392 citations Open access
Semantic Scholar
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
E. Davis, Qi Zhang, Qin Liu, B. Diplas +43 more
2011Nature Genetics368 citations Open access
Semantic Scholar
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
E. Otto, T. Hurd, Rannar Airik, M. Chaki +51 more
2010Nature Genetics331 citations Open access
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
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
E. Valente, Clare V. Logan, S. Mougou-Zerelli, J. H. Lee +47 more
2010Nature Genetics286 citations Open access
Semantic Scholar
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
O. Boyer, F. Névo, E. Plaisier, B. Funalot +29 more
2011New England Journal of Medicine278 citations Open access
Semantic Scholar
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
C. Bredrup, S. Saunier, M. Oud, T. Fiskerstrand +24 more
2011American Journal of Human Genetics241 citations Open access
Semantic Scholar
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
J. Halbritter, A. Bizet, M. Schmidts, Jonathan D. Porath +45 more
2013American Journal of Human Genetics223 citations Open access
Semantic Scholar
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
I. Perrault, S. Saunier, S. Hanein, E. Filhol +26 more
2012American Journal of Human Genetics206 citations Open access
Semantic Scholar
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Sylvia Hoff, J. Halbritter, Daniel Epting, V. Frank +37 more
2013Nature Genetics201 citations Open access
Semantic Scholar
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
E. Otto, G. Ramaswami, Sabine Janssen, M. Chaki +15 more
2010Journal of Medical Genetics153 citations Open access
Semantic Scholar
TCTN3 mutations cause Mohr-Majewski syndrome.
S. Thomas, M. Legendre, S. Saunier, B. Bessières +22 more
2012American Journal of Human Genetics145 citations Open access
Semantic Scholar
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
E. Otto, K. Tory, M. Attanasio, Wei-Bin Zhou +12 more
2009Journal of Medical Genetics138 citations Open access
Semantic Scholar
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
M. Schmidts, V. Frank, T. Eisenberger, S. Al Turki +27 more
2013Human Mutation134 citations Open access
Semantic Scholar
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
C. Thauvin-Robinet, Jaclyn S. Lee, E. Lopez, V. Herranz-Pérez +25 more
2014Nature Genetics133 citations Open access
Semantic Scholar
Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length
R. Ghossoub, Qicong Hu, Marion Failler, M. Rouyez +7 more
2013Journal of Cell Science125 citations Open access
Semantic Scholar
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
N. Lambacher, A. Bruel, T. V. van Dam, K. Szymanska +20 more
2015Nature Cell Biology124 citations Open access
Semantic Scholar
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
S. Thomas, K. J. Wright, S. L. Le Corre, A. Micalizzi +24 more
2014Human Mutation124 citations Open access
Semantic Scholar
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Markus Schueler, Daniela A. Braun, G. Chandrasekar, H. Gee +25 more
2015American Journal of Human Genetics121 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
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Marion Failler, H. Gee, P. Krug, Kwangsic Joo +22 more
2014American Journal of Human Genetics107 citations Open access
Semantic Scholar
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
L. Heidet, V. Moriniére, Charline Henry, L. De Tomasi +21 more
2017Journal of the American Society of Nephrology105 citations Open access
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
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
A. Bizet, A. Becker-Heck, R. Ryan, Kristina Weber +30 more
2015Nature Communications96 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
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
S. Mougou-Zerelli, S. Thomas, Emmanuelle Szenker, S. Audollent +28 more
2009Human Mutation95 citations Open access
Semantic Scholar
Diagnosis support systems for rare diseases: a scoping review
C. Faviez, Xiao-Yi Chen, N. Garcelon, A. Neuraz +5 more
2020Orphanet Journal of Rare Diseases93 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
15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes
A. Bruel, B. Franco, Y. Duffourd, J. Thevenon +48 more
2017Journal of Medical 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
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
C. Alby, Kevin Piquand, C. Huber, A. Mégarbané +26 more
2015American Journal of Human Genetics85 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
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling
K. B. Schou, J. B. Mogensen, S. Morthorst, B. S. Nielsen +9 more
2017Nature Communications71 citations Open access
Semantic Scholar
TMEM 231 , mutated in orofaciodigital and Meckel syndromes , organizes the ciliary transition zone
E. Roberson, William E. Dowdle, Aysegul Ozanturk, F. Garcia-Gonzalo +17 more
201569 citations
Semantic Scholar
Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration
I. Veland, R. Montjean, L. Eley, L. B. Pedersen +6 more
2013PLoS ONE69 citations Open access
Semantic Scholar
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis
M. Girard, A. Bizet, A. Lachaux, E. Gonzales +18 more
2016Human Mutation68 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
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model
Simon A. Ramsbottom, E. Molinari, Shalabh Srivastava, Flora Silberman +8 more
2018Proceedings of the National Academy of Sciences of the United States of America65 citations Open access
Semantic Scholar
Cell type‐specific regulation of ciliary transition zone assembly in vertebrates
A. Wiegering, R. Dildrop, Lisa Kalfhues, André Spychala +12 more
2018EMBO Journal61 citations Open access
Semantic Scholar
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
Shalabh Srivastava, Simon A. Ramsbottom, E. Molinari, Sumaya Alkanderi +6 more
2017Human Molecular Genetics57 citations Open access
Semantic Scholar
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Friederike Petzold, K. Billot, Xiao-Yi Chen, Charline Henry +18 more
2023Kidney International45 citations Open access
Semantic Scholar
Loss‐of‐function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
M. Reilly, M. Stokman, V. Magry, C. Jeanpierre +19 more
2018Human Molecular Genetics42 citations Open access
Semantic Scholar
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
R. Ryan, Marion Failler, M. Reilly, M. Garfa-Traoré +11 more
2018Human Molecular Genetics38 citations Open access
Semantic Scholar
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
I. Perrault, J. Halbritter, Jonathan D. Porath, X. Gérard +20 more
2015Journal of Medical Genetics37 citations Open access
Semantic Scholar
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease
Wesley R. Lewis, Erik B. Malarkey, D. Tritschler, Raqual Bower +17 more
2016PLoS Genetics35 citations Open access
Semantic Scholar
Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis
M. Stokman, S. Saunier, A. Benmerah
2021Frontiers in Cell and Developmental Biology34 citations Open access
Semantic Scholar
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
E. Roberson, William E. Dowdle, Aysegul Ozanturk, F. Garcia-Gonzalo +17 more
2015Journal of Cell Biology34 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
Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals
Claas Wodarczyk, Gianfranco Distefano, I. Rowe, M. Gaetani +15 more
2010PLoS ONE32 citations Open access
Semantic Scholar
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Véronique Geoffroy, C. Stoetzel, Sophie Scheidecker, E. Schaefer +22 more
2018Human Mutation27 citations Open access
Semantic Scholar

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