Jean-michel M. Rozet

Paris, France

Last Updated: 09/26/2026

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Found 64 publications

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

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

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Journal: Investigative ophthalmology & visual science

Published: August 20, 2025

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

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Journal: Human genetics

Published: July 31, 2024

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

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

Journal: BMC medical informatics and decision making

Published: January 30, 2024

ITPR1: The missing gene in miosis-ataxia syndrome?

ITPR1: The missing gene in miosis-ataxia syndrome?

Journal: American journal of medical genetics. Part A

Published: January 24, 2024

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

Journal: International journal of molecular sciences

Published: January 17, 2024

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

Journal: American journal of human genetics

Published: January 12, 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

Showing 1-12 of 64

Last Updated: 09/26/2026