S. Gerber

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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.

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.

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.

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

A. Munnich, E. Souied, J. Dufier, 1999, Journal of medical 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.

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

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

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.

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

J. Weissenbach, A. Munnich, H. Dollfus, 1996, Human Genetics.

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.

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.

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

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

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.

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.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of 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.

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

J. Weissenbach, A. Munnich, H. Chaib, 1997, Human molecular genetics.

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

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

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

A. Munnich, N. Janin, J. Frézal, 1994, Journal of medical genetics.

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.

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.

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.

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.

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

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

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

A. Munnich, E. Souied, G. Soubrane, 1996, American journal of ophthalmology.

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.

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.

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.

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

K. Steel, A. Munnich, C. Petit, 1997, Human molecular 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.

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.

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

A. Munnich, S. Hanein, J. Dufier, 2003, Journal of medical genetics.

Clinical and genetic characteristics of enhanced S‐cone syndrome in a Tunisian cohort: experience of the oculogenetic laboratory LR14SP01

T., C. Kostic, P. Calvas, 2018, Acta Ophthalmologica.

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.

A third locus for dominant optic atrophy on chromosome 22q

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

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.

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.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

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

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

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

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

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

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.

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

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

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.

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

T. Léveillard, J. Sahel, A. Munnich, 2006, Advances in experimental medicine and biology.