Presentation
Resources & publications
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2018Journal (source)Am. J. Hum. Genet.Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2020Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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2023Journal (source)medRxiv
TUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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Journal (source)Cold Spring Harbor Laboratory
TUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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2022Journal (source)JAMA Ophthalmol
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
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2021Journal (source)J Clin Invest
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
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2020Journal (source)Brain
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)Brain
Reply: The expanding neurological phenotype of DNM1L-related disorders.
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2018Journal (source)JAMA Neurol
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2023Journal (source)EMBO Mol Med
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
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2023Journal (source)Brain
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-...
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2023Journal (source)Cell Rep
PCDH12 loss results in premature neuronal differentiation and impeded migrati...
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2018Journal (source)JAMA Neurol
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2015Journal (source)Am J Hum Genet
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2013Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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2012Journal (source)Brain
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
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2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2004Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2002Journal (source)Am J Hum Genet
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2024Journal (source)Science
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in...
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2024Journal (source)Int J Mol Sci
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ...
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2022Journal (source)JAMA Ophthalmol
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
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2021Journal (source)Genes (Basel)
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 P...
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2019Journal (source)Adv Exp Med Biol
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated wi...
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2019Journal (source)Adv Exp Med Biol
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusu...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)Hum Mutat
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Invest Ophthalmol Vis Sci
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Tra...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2015Journal (source)Mol Ther Nucleic Acids
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2003Journal (source)Adv Exp Med Biol
Leber congenital amaurosis--genotyping required for possible inclusion in a c...
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2004Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2024Journal (source)Nat Commun
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...