Isabelle Perrault

Paris, 75006, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 30 publications

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

Journal: Genome medicine

Published: July 08, 2025

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

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

Journal: Science (New York, N.Y.)

Published: April 25, 2024

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

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

Journal: International journal of molecular sciences

Published: April 04, 2024

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

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

Journal: Nature communications

Published: October 09, 2023

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

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

Journal: JAMA ophthalmology

Published: October 20, 2022

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

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

Journal: Genes

Published: January 18, 2021

Heimler Syndrome.

Heimler Syndrome.

Journal: Advances in experimental medicine and biology

Published: January 08, 2021

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

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

Journal: American journal of human genetics

Published: September 05, 2020

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

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

Journal: American journal of human genetics

Published: March 06, 2020

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

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

Journal: Advances in experimental medicine and biology

Published: December 30, 2019

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

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

Journal: Advances in experimental medicine and biology

Published: December 30, 2019

Showing 1-12 of 30

Last Updated: 09/26/2026