Présentation
Publications scientifiques
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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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2020Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2019Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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2019Journal (source)Blood
Pediatric Evans syndrome is associated with a high frequency of potentially d...
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2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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2018Journal (source)J Crohns Colitis
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato...
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2018Journal (source)Am. J. Hum. Genet.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with...
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2017Journal (source)Nat Med
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation...
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2017Journal (source)J Clin Immunol
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A...
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2016Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic mutations cause non-syndr...
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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.