Resources

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

Jean-Michel Rozet

Source :

Pmid / DOI:

Sickle Cell Disease: From Genetics to Curative Approaches.

Giulia Hardouin, Marina Cavazzana, Annarita Miccio

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:

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:

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

Jean-Michel Rozet

Source :

Pmid / DOI:

Repurposing small molecules for nephronophthisis and related renal ciliopathies.

Alexandre Benmerah , Sophie Saunier

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:

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:

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:

Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.

Anca Marian, Edor Kabashi

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: