Résultat de recherche

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Marlène Rio, Arnold Munnich, Agnès Rötig, Lucas BIANCHI, Jean-Michel Rozet

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Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Jean-Michel Rozet

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

Jean-Michel Rozet

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PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

Jean-Michel Rozet

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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Jean-Michel Rozet

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Marlène Rio, Arnold Munnich, Agnès Rötig, Lucas BIANCHI, Jean-Michel Rozet

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Lydie Burglen, Valentina Marchesin, Marlène Rio, Nadia Bahi-Buisson, Christine Bole, Arnold Munnich, Matias Simons, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet

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Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

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NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.

Antonio Rausell

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Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Arnold Munnich, Jean-Michel Rozet

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