Publications and ressources

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Jean-Michel Rozet

Source :

Pmid / DOI:

Repurposing of the multiciliation gene regulatory network in fate specification of Cajal-Retzius neurons.

Yoann Saillour, Vicente Elorriaga, Elodie Delberghe, Alessandra Pierani, Frédéric Causeret

Source :

Pmid / DOI:

Repurposing of the multiciliation gene regulatory network in fate specification of Cajal-Retzius neurons.

Yoann Saillour, Vicente Elorriaga, Elodie Delberghe, Alessandra Pierani, Frédéric Causeret

Source :

Pmid / DOI:

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:

Repurposing small molecules for nephronophthisis and related renal ciliopathies.

Alexandre Benmerah , Sophie Saunier

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:

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Jean-Michel Rozet

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:

Repurposing of the multiciliation gene regulatory network in fate specification of Cajal-Retzius neurons

Matthieu Moreau, Yoann Saillour, Vicente Elorriaga, Amaia OCHANDORENA SAA , Alessandra Pierani, Frédéric Causeret

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:

Diversity within olfactory sensory derivatives revealed by the contribution of Dbx1 lineages

Frédéric Causeret, Alessandra Pierani

Source :

Pmid / DOI:

Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies.

Mégane Brusson, Anne Chalumeau, Pierre Martinucci, Oriana Romano, Tristan Felix, Sophie Ramadier, Marina Cavazzana, Annarita Miccio

Source :

Pmid / DOI:

Aberrant survival of hippocampal Cajal-Retzius cells leads to memory deficits, gamma rhythmopathies and susceptibility to seizures in adult mice

Alessandra Pierani, Martina Riva, Patrick Azzam, Francesco Dori

Source :

Pmid / DOI:

Activation of the PI3K/AKT/mTOR Pathway in Cajal-Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures

Nasim Ramezanidoraki, Driss EL-OUARDI, Nadia Bahi-Buisson, Alessandra Pierani, Pierre Billuart

Source :

Pmid / DOI: