Publications and ressources

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Isabelle PERRAULT, Jean-Michel Rozet

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Jeanne Amiel, Jean-Michel Rozet, Isabelle PERRAULT

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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Andrea Zanetti, Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet, Isabelle PERRAULT

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet, Isabelle PERRAULT

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Isabelle PERRAULT, Mohammed ZARHRATE, Jean-Michel Rozet

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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet, Isabelle PERRAULT

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Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Sandrine Marlin, Jean-Michel Rozet, Isabelle PERRAULT

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Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Isabelle PERRAULT, Marlène Rio, Jean-Michel Rozet

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Isabelle PERRAULT, Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Isabelle PERRAULT, Sophie Saunier, Jean-Michel Rozet

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Sandrine Marlin, Jean-Michel Rozet, Meriem Garfa-Traoré , Stanislas Lyonnet, Nathalie Boddaert

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin, Isabelle PERRAULT

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A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

Isabelle PERRAULT

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