Publications and ressources

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Friederike Petzold, Katy Billot, Xiaoyi Chen, Yoann Martin, Maxime Douillet, Cécile Jeanpierre, Olivia Boyer, Aude Servais, Alexandre Benmerah , Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Sophie Saunier, Tania Attié-Bitach, Jean-Michel Rozet, Lydie Burglen, Marlène Rio, Sabine Sarnacki

Source :

Pmid / DOI:

A wave of deep intronic mutations in X-linked Alport syndrome.

Christelle Arrondel, Hassan Saei, Laurence Heidet, Jessica Kachmar, Philippe Couarch, Olivier Gribouval, Mélanie Parisot, Patrick Nitschké, Corinne Antignac, Guillaume Dorval

Source :

Pmid / DOI:

Repurposing small molecules for nephronophthisis and related renal ciliopathies.

Alexandre Benmerah , Sophie Saunier

Source :

Pmid / DOI:

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

Hassan Saei, Laurence Heidet, Olivier Gribouval, Corinne Antignac, Patrick Nitschké, Guillaume Dorval

Source :

Pmid / DOI:

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidney cell type consensus signatures.

Marceau Quatredeniers, Alexandre Benmerah , Antonio Rausell, Sophie Saunier, Amandine Viau

Source :

Pmid / DOI:

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Marie Dirix, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Corinne Antignac, Laurence Heidet, Guillaume Dorval

Source :

Pmid / DOI:

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.

Giulia Ferri, Mélanie Parisot, Alexandre Benmerah , Sophie Saunier

Source :

Pmid / DOI:

The renal inflammatory network of nephronophthisis.

Marceau Quatredeniers, Giulia Ferri, Esther Porée, Katy Billot, Eléonore Birgy, Salomé Ceccarelli, Sophie Saunier, Amandine Viau

Source :

Pmid / DOI:

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Hugo Garcia, Esther Porée, Amandine Viau, Katy Billot, Eléonore Birgy, Meriem Garfa-Traoré , Salomé Ceccarelli, Manon Mehraz, Corinne Antignac, Stanislas Lyonnet, Alexandre Benmerah , Sophie Saunier

Source :

Pmid / DOI:

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Guillaume Dorval, Christelle Arrondel, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet

Source :

Pmid / DOI:

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis

Marc Vincent, Nicolas Garcelon, Sophie Saunier

Source :

Pmid / DOI:

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Source :

Pmid / DOI:

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Frances Tilley

Source :

Pmid / DOI:

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Christelle Arrondel, Tania Attié-Bitach, Corinne Antignac, Sophie Saunier, Laurence Heidet

Source :

Pmid / DOI:

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet

Source :

Pmid / DOI: