Jean-Michel ROZET | Institut Imagine

Présentation

Jean-Michel ROZET

Génétique des maladies rares ophtalmologiques, auditives et mitochondriales

Contact :

01 42 75 43 06

jean-michel.rozet@inserm.fr

À propos

Publications scientifiques

Publications

2026

COBT: a gene-based rare variant burden test for case-only study designs using..., Genome Med
2026

Biallelic germline variants in the hematologic malignancy predisposition gene..., medRxiv
2026

Biallelic germline variants in the hematologic malignancy predisposition gene..., openRxiv
2024

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun
2024

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease ..., Am J Hum Genet
2024

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ..., Int J Mol Sci
2024

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in..., Science
2023

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv
2023

PCDH12 loss results in premature neuronal differentiation and impeded migrati..., Cell Rep
2023

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy., EMBO Mol Med
2023

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-..., Brain
2022

TUBB4B variants specifically impact ciliary function, caus..., openRxiv
2022

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S..., JAMA Ophthalmol
2021

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy., J Clin Invest
2020

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit..., Brain
2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing..., Hum Mol Genet
2018

Reply: The expanding neurological phenotype of DNM1L-related disorders., Brain
2017

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet
2017

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre..., JAMA Neurol
2017

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo..., Brain
2016

Compound heterozygosity for severe and hypomorphic mutations cause non-syndr..., J Med Genet
2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet
2015

Submicroscopic deletions at 13q32.1 cause congenital microcoria., Am J Hum Genet
2014

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ..., Am J Hum Genet
2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet
2012

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy., Brain
2012

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ..., Nat Genet
2012

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co..., Mol Ther Nucleic Acids
2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet
2009

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive..., Am J Hum Genet
2004

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis., Am J Hum Genet
2003

The ABCA4 gene in autosomal recessive cone-rod dystrophies., Am J Hum Genet

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Présentation

À propos

Publications scientifiques

COBT: a gene-based rare variant burden test for case-only study designs using..., Genome Med

Biallelic germline variants in the hematologic malignancy predisposition gene..., medRxiv

Biallelic germline variants in the hematologic malignancy predisposition gene..., openRxiv

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease ..., Am J Hum Genet

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ..., Int J Mol Sci

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in..., Science

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv

PCDH12 loss results in premature neuronal differentiation and impeded migrati..., Cell Rep

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy., EMBO Mol Med

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

TUBB4B variants specifically impact ciliary function, caus..., openRxiv

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S..., JAMA Ophthalmol

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy., J Clin Invest

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit..., Brain

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet

Basal exon skipping and nonsense-associated altered splicing allows bypassing..., Hum Mol Genet

Reply: The expanding neurological phenotype of DNM1L-related disorders., Brain

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre..., JAMA Neurol

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo..., Brain

Compound heterozygosity for severe and hypomorphic mutations cause non-syndr..., J Med Genet

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet

Submicroscopic deletions at 13q32.1 cause congenital microcoria., Am J Hum Genet

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ..., Am J Hum Genet

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy., Brain

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ..., Nat Genet

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co..., Mol Ther Nucleic Acids

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive..., Am J Hum Genet

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis., Am J Hum Genet

The ABCA4 gene in autosomal recessive cone-rod dystrophies., Am J Hum Genet