Publications by authors named "Isabelle Perrault"

Claim this Profile
G
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E Roger, Isabelle Perrault

Nat Commun· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.
Rene Moya, Clémentine Angée, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault

Int J Mol Sci· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Isabelle Perrault

Science· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
Vasily M Smirnov, Matthieu P Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Isabelle Perrault

JAMA Ophthalmol· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub

Genes (Basel)· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Isabelle Perrault

Am J Hum Genet· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Isabelle Perrault

Am J Hum Genet· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
Iris Barny, Isabelle Perrault, Marlène Rio, Hélène Dollfus, Sabine Defoort-Dhellemmes

Adv Exp Med Biol· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.
Sabrina Mechaussier, Sandrine Marlin, Josseline Kaplan, Jean-Michel Rozet, Isabelle Perrault

Adv Exp Med Biol· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent c.4723A > T Mutation. Fact or Fiction?
Iris Barny, Isabelle Perrault, Christel Michel, Nicolas Goudin, Sabine Defoort-Dhellemmes

Genes (Basel)· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Iris Barny, Isabelle Perrault, Christel Michel, Mickael Soussan, Nicolas Goudin

Hum Mol Genet· August 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, Elise Schaefer, Isabelle Perrault

Hum Mutat· July 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
Sarah Perez-Roustit, Virginie Marquette, Béatrice Bocquet, Josseline Kaplan, Isabelle Perrault

Retin Cases Brief Rep· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Romain Luscan, Sabrina Mechaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Isabelle Perrault

Am J Hum Genet· December 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Isabelle Perrault

Nat Commun· November 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Sarah Hull, Nicholas Owen, Farrah Islam, Dhani Tracey-White, Vincent Plagnol, Isabelle Perrault

Invest Ophthalmol Vis Sci· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Isabelle Perrault, Jan Halbritter, Jonathan D Porath, Xavier Gérard, Daniela A Braun

J Med Genet· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.
Xavier Gérard, Isabelle Perrault, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Mol Ther Nucleic Acids· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Longitudinal burn scar quantification.
Bernadette Nedelec, José A Correa, Ana de Oliveira, Leo LaSalle, Isabelle Perrault

Burns· December 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Isabelle Perrault, Fadi F Hamdan, Marlène Rio, José-Mario Capo-Chichi, Nathalie Boddaert

Am J Hum Genet· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Sophie Thomas, Kevin J Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Isabelle Perrault

Hum Mutat· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Sylvain Hanein, Mathilde Garcia, Lucas Fares-Taie, Valérie Serre, Yves De Keyzer, Isabelle Perrault

Biochim Biophys Acta· June 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Beatrice Bocquet, Annie Lacroux, Marie-Odile Surget, Corinne Baudoin, Virginie Marquette, Isabelle Perrault

Ophthalmic Epidemiol· May 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Josseline Kaplan, Isabelle Perrault, Sylvain Hanein, Hélène Dollfus, Jean-Michel Rozet

Med Sci (Paris)· January 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot

Mol Ther Nucleic Acids· June 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis