Presentation
Contact
Emmanuelle Six is an INSERM scientist researcher in the Human Lymphohematopoiesis laboratory at Imagine Institute, Paris. Her work in hematopoiesis contributes in the characterization of human lymphoid progenitors and the description of profound immune deficiency. Based on this expertise in fundamental and clinical hematology, Emmanuelle Six is leading a project dedicated to human hematopoiesis and which has allow her to develop an interdisciplinary project with other laboratories.
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...
-
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...