J. Rozet

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

A. Munnich, A. D. den Hollander, F. Cremers, 2013, PloS one.

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects

J. Rozet, B. Nedelec, L. Fares Taie, 2019, Human Genetics.

Incomplete penetrance of biallelic ALDH1A3 mutations.

P. Calvas, N. Chassaing, A. Verloes, 2016, European journal of medical genetics.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Rapid communication Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

A. Munnich, E. Souied, G. Coscas, 1998 .

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

A. Munnich, E. Souied, G. Soubrane, 1998, Vision Research.

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, American journal of human genetics.

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

H. Blanché, S. Saunier, A. Boland, 2018, Human mutation.

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

J. Weissenbach, A. Munnich, E. Souied, 1995, American journal of human genetics.

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

M. D'urso, C. Wadelius, A. Metspalu, 2002, European Journal of Human Genetics.

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

A. Munnich, S. Shalev, J. Kaplan, 2006, European Journal of Human Genetics.

Genetic heterogeneity of Usher syndrome type 1 in French families.

J. Weissenbach, D. Bonneau, J. Dufier, 1994, Genomics.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

A. Munnich, T. Delaveau, F. Devaux, 2013, Biochimica et biophysica acta.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Robert W. Taylor, T. Strom, H. Prokisch, 2018, JAMA neurology.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

J. Sahel, N. Boddaert, S. Lyonnet, 2017, American journal of human genetics.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

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

J. Sahel, M. Polak, N. Boddaert, 2020, American journal of human genetics.

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, S. Hanein, H. Dollfus, 2007, Human mutation.

A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.

A. Munnich, E. Souied, G. Soubrane, 1999, Investigative ophthalmology & visual science.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

A. Munnich, S. Hanein, P. Calvas, 2012, Nature Genetics.

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

S. Hanein, I. Perrault, S. Gerber, 2006, Advances in experimental medicine and biology.

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

F. Alkuraya, J. Baptista, P. Calvas, 2022, Journal of Medical Genetics.

USH1A: chronicle of a slow death.

A. Munnich, D. Bonneau, J. Dufier, 2006, American journal of human genetics.

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

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

A. Munnich, E. Souied, O. Gribouval, 2000, Human Genetics.

RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME.

E. Souied, J. Zerbib, I. Audo, 2017, Retinal cases & brief reports.

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

M. Margaglione, E. Souied, G. Soubrane, 2009, Molecular vision.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A. Munnich, S. Hanein, J. Dufier, 2006, Advances in experimental medicine and biology.

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

A. Munnich, S. Lyonnet, D. Rabier, 1995, Prenatal diagnosis.

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

J. Sahel, I. Audo, I. Perrault, 2022, JAMA ophthalmology.

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

N. Boddaert, Majida Charif, D. Bonneau, 2017, Brain : a journal of neurology.

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

A. Munnich, E. Souied, N. Philip, 1994, Human molecular genetics.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

A. Munnich, S. Hanein, P. Amati‐Bonneau, 2016, Journal of Medical Genetics.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American Journal of Human Genetics.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

A. Munnich, N. Boddaert, S. Hanein, 2009, American journal of human genetics.

Evidence for a fourth locus in Usher syndrome type I.

A. Munnich, D. Bonneau, V. D. Der Kaloustian, 1996, Journal of medical genetics.

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

J. Sahel, A. Munnich, S. Picaud, 2003, Advances in experimental medicine and biology.

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

A. Munnich, S. Hanein, I. Perrault, 2002, Human mutation.

Spectrum of retGC1 mutations in Leber's congenital amaurosis

A. Munnich, E. Souied, J. Dufier, 2000, European Journal of Human Genetics.

Multimodal analysis of the progression of Best vitelliform macular dystrophy

E. Souied, J. Zerbib, N. Massamba, 2014, Molecular vision.

Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration

J. Sahel, A. Munnich, E. Souied, 2013, Molecular vision.

NDP gene mutations in 14 French families with Norrie disease

A. Munnich, S. Hanein, J. Steffann, 2003, Human mutation.

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, Hormone research.

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Arnold Munnich, Martine Le Merrer, A. Munnich, 1994, Nature.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

A. Munnich, S. Hanein, H. Dollfus, 2004, American journal of human genetics.

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

A. Munnich, D. Bonneau, O. Boespflug-Tanguy, 1994, Nature Genetics.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

A. Munnich, A. Durr, C. Orssaud, 2016, American journal of human genetics.

Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, Molecular genetics and metabolism.

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

A. Smahi, A. Munnich, E. Souied, 1999, American journal of human genetics.

Expanding CEP290 mutational spectrum in ciliopathies

E. Bertini, F. Brancati, E. Valente, 2009, American journal of medical genetics. Part A.

Structure and refinement of the physical mapping of the γ-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma

A. Munnich, E. Souied, P. Calvas, 1998, Cytogenetic and Genome Research.

Congenital Microcoria: Clinical Features and Molecular Genetics

J. Rozet, B. Nedelec, L. Fares Taie, 2021, Genes.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

A. Munnich, D. Zafeiriou, S. Hanein, 2004, Human mutation.

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

A. Munnich, N. Janin, H. Dollfus, 1993, Nature Genetics.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Arnold Munnich, Eric Souied, A. Munnich, 1998, European Journal of Human Genetics.

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

C. Orssaud, C. Johansson, S. Gerber, 2021, Genes.

No evidence of genetic heterogeneity in dominant optic atrophy.

J. Weissenbach, A. Munnich, E. Souied, 1995, Journal of medical genetics.

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

D. Scherman, A. Munnich, S. Hanein, 2012, Molecular therapy. Nucleic acids.

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

D. Bonneau, H. Dollfus, J. Frézal, 1992, Genomics.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

A. Munnich, Philippe P Roux, N. Boddaert, 2014, American journal of human genetics.

[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].

J. Dufier, O. Roche, J. Kaplan, 2013, Bulletin de l'Academie nationale de medecine.

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

A. Munnich, P. Calvas, B. Gilbert-Dussardier, 1996, Human mutation.

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

A. Munnich, S. Hanein, R. Carmi, 2008, European Journal of Human Genetics.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

J. Shendure, D. Nickerson, Martin Kircher, 2018, JIMD reports.

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

D. Paslier, A. Munnich, E. Souied, 1996, Nature Genetics.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Yusuke Nakamura, Toshihiro Tanaka, A. Munnich, 2015, American journal of human genetics.

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

R. Collin, J. Rozet, X. Gérard, 2016, Advances in experimental medicine and biology.

rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration

A. Munnich, E. Souied, G. Soubrane, 2009, PloS one.

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

A. Munnich, S. Hanein, T. Homfray, 2001, European Journal of Human Genetics.

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

A. Munnich, I. Perrault, J. Kaplan, 2015, Molecular therapy. Nucleic acids.

The ABCA4 gene in autosomal recessive cone-rod dystrophies.

A. Munnich, S. Hanein, J. Dufier, 2002, American journal of human genetics.

ABCR gene analysis in familial exudative age-related macular degeneration.

A. Munnich, E. Souied, G. Soubrane, 2000, Investigative ophthalmology & visual science.

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

A. Munnich, E. Souied, G. Soubrane, 1999, Molecular genetics and metabolism.

A. Munnich, E. Souied, G. Soubrane, 1999, American journal of ophthalmology.

Phenotype-Genotype Correlations in Retinal Degenerations Caused by Abcr gene Mutations

A. Munnich, E. Souied, G. Soubrane, 1999 .

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

A Blankenagel, A. Munnich, F. Cremers, 1998, Genomics.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

B. Lorenz, D. Fischer, F. Parmeggiani, 2021, Orphanet Journal of Rare Diseases.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

[Hereditary macular dystrophies].

J. Dufier, C. Hamel, S. Gerber, 2005, Journal francais d'ophtalmologie.

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Nicolas Goudin, I. Perrault, J. Kaplan, 2019, Genes.

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

H. Dollfus, Nicolas Goudin, T. Attié-Bitach, 2018, Human molecular genetics.

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

A. Munnich, D. Hunt, E. Souied, 1998, American journal of human genetics.

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.

M. Margaglione, E. Souied, J. Zerbib, 2011, Investigative ophthalmology & visual science.

Expanding the KIF4A ‐associated phenotype

F. Alkuraya, N. Chassaing, W. Dobyns, 2021, American journal of medical genetics. Part A.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

A. Munnich, A. Toutain, H. Dollfus, 2007, Human mutation.

Severe manifestations in carrier females in X linked retinitis pigmentosa.

A. Munnich, E. Souied, B. Segues, 1997, Journal of medical genetics.

Exclusion of five subunits of cGMP phosphodiesterase in Leber’s congenital amaurosis

A. Munnich, E. Souied, J. de Gunzburg, 1998, Human Genetics.

Eye Disorders: Hereditary

J. Kaplan, J. Rozet, 2008 .

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A. Munnich, S. Hanein, J. Dufier, 2003, European Journal of Human Genetics.

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

J. Sahel, A. Munnich, E. Souied, 2010, Molecular vision.

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A. Munnich, S. Hanein, J. Zlotogora, 2002, Ophthalmic genetics.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

A. Munnich, S. Hanein, P. Nitschké, 2011, European Journal of Human Genetics.

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

C. Métin, A. Munnich, J. Billard, 2020, Brain : a journal of neurology.

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.

J. Sahel, A. Munnich, E. Souied, 2011, Experimental eye research.

GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

E. Souied, F. Richard, R. Blanco-Garavito, 2020, Retina.

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

S. Hanein, X. Zanlonghi, I. Meunier, 2021, Genes.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

G. Holder, V. Plagnol, F. Raymond, 2016, Investigative ophthalmology & visual science.

Understanding disease pleiotropy: From puzzle to solution

J. Rozet, X. Gérard, 2015, Science Translational Medicine.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

N. Boddaert, R. Lifton, S. Saunier, 2015, Journal of Medical Genetics.

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

S. Hanein, D. Hicks, I. Perrault, 2002, The journal of gene medicine.

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

H. Dollfus, S. Pittler, E. Viégas-Péquignot, 1994, Genomics.

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

J. Sahel, S. Hanein, D. Hicks, 2003, Advances in experimental medicine and biology.

A gene for Leber's congenital amaurosis maps to chromosome 17p

J. Weissenbach, A. Munnich, D. Bonneau, 1995 .

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

A. Munnich, S. Hanein, E. Souied, 2001, Investigative ophthalmology & visual science.

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

A. Munnich, E. Souied, J. Dufier, 2002, Journal of medical genetics.

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype

A. Munnich, S. Hanein, J. Dufier, 2005, Human mutation.

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

I. Perrault, J. Kaplan, J. Rozet, 2019, Advances in Experimental Medicine and Biology.

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

J. Rozet, L. Fares-Taie, J. Rakotomamonjy, 2023, Cell reports.

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

D. Le Paslier, A. Munnich, P. Calvas, 1996, Genomics.

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

S. Thobois, F. Bouhour, S. Gerber, 2023, EMBO molecular medicine.

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

Karolina, Carlo, N. Boddaert, 2023, medRxiv.

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

A. Munnich, S. Hanein, J. Dufier, 2007, Human mutation.

Staphylococcal food poisoning.

A. L. Wong, J. Gécz, M. Rietschel, 2002 .

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

S. Hanein, J. Papon, E. Escudier, 2010, Journal of Medical Genetics.

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.

M. Margaglione, E. Souied, J. Zerbib, 2011, Investigative ophthalmology & visual science.

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

A. Munnich, D. Bonneau, C. Bulteau, 1993, Journal of medical genetics.

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

N. Boddaert, D. Bonneau, P. Amati‐Bonneau, 2018, Brain : a journal of neurology.

A third locus for dominant optic atrophy on chromosome 22q

A. Munnich, C. Orssaud, S. Hanein, 2005, Journal of Medical Genetics.

Scarring Alopecia

S. Girirajan, I. Zusman, H. Meinck, 2020 .

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

K. Heimdal, E. Jabs, H. Omran, 2022, medRxiv.

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm

G. Lenaers, S. Gerber, J. Kaplan, 2023, Brain : a journal of neurology.

Two Novel Missense Mutations in the Peripherin/RDS Gene in two Unrelated French Patients with Autosomal Dominant Retinitis Pigmentosa

A. Munnich, G. Soubrane, G. Coscas, 1998, European journal of ophthalmology.

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

A. Fulton, E. Jabs, H. Omran, 2024, Science.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, D. Zafeiriou, S. Hanein, 2010, Human mutation.

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

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.