Presentation
Scientific Publications
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2024Journal (source)Nat CommunGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
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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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2024Journal (source)Science
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in...
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Journal (source)Cold Spring Harbor Laboratory
GPATCH11 variants cause mis-splicing and early-onset retin...
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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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2021Journal (source)J Clin Invest
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
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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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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)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)JAMA Neurol
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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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)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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2016Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic mutations cause non-syndr...
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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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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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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)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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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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2003Journal (source)Am J Hum Genet
The ABCA4 gene in autosomal recessive cone-rod dystrophies.