Presentation
Scientific Publications
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2026Journal (source)Transl PsychiatryMultimodal imaging reveals resilient memory networks in carriers of pathogeni...
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2025Journal (source)Mol Autism
Deciphering the genetic basis of developmental language disorder in children ...
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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2024Journal (source)Cereb Cortex
Identifying interindividual variability of social perception and associated b...
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2020Journal (source)Am. J. Hum. Genet.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,...
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2019Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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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.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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2018Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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2018Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
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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 Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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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)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
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2018Journal (source)Brain
Reply: The expanding neurological phenotype of DNM1L-related disorders.
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2018Journal (source)Hum Mutat
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
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2018Journal (source)J Med Genet
.High predictive value of brain MRI imaging in primary mitochondrial respirato...
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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)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ...
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2017Journal (source)J. Med. Genet.
Segregation of mitochondrial DNA mutations in the human placenta: implication...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2016Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic mutations cause non-syndr...
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2016Journal (source)Am. J. Hum. Genet.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2016Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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2015Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...