Sylvie GERBER | Institut Imagine

Presentation

Sylvie GERBER

Ophthalmic genetics

Contact :

sylvie.gerber@institutimagine.org

About

Scientific Publications

Publications

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
2021

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy., J Clin Invest
2018

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

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch..., Am J Hum Genet
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

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

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med 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

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

Faire un don

Presentation

About

Scientific Publications

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

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

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

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

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

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch..., Am J Hum Genet

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

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

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med 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

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