Marlène RIO | Institut Imagine

Presentation

Marlène RIO

Genetics of Neurodevelopmental Disorders

Contact :

01 44 49 51 58

marlene.rio@aphp.fr

About

Scientific Publications

Publications

2026

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC
2026

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC
2025

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorp..., Am J Med Genet A
2025

Deciphering the genetic basis of developmental language disorder in children ..., Mol Autism
2024

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorde..., Eur J Med Genet
2024

Next generation phenotyping for diagnosis and phenotype-genotype correlations..., Sci Rep
2023

Identifying interindividual variability of social perception and associated b..., Oxford University Press (OUP)
2023

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA
2023

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC
2023

Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome..., Wiley
2023

An automatic facial landmarking for children with rare diseases., Am J Med Genet A
2022

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley
2022

Natural history of Myhre syndrome., Orphanet J Rare Dis
2022

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis
2020

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or b..., J Med Genet
2020

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term ou..., Epilepsia
2020

PRPS1 loss-of-function variants, from isolated hearing loss to severe congeni..., Eur J Med Genet
2020

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet
2019

Clinical, neuroimaging and biochemical findings in patients and patient fibro..., Hum Mutat
2019

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet
2018

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein..., Hum Mol Genet
2018

Anatomical and functional abnormalities on MRI in kabuki syndrome., Neuroimage Clin
2018

Inhibition of mitochondrial translation in fibroblasts from a patient express..., Hum Mutat
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing..., Hum Mol Genet
2018

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso..., Am J Hum Genet
2018

Reply: The expanding neurological phenotype of DNM1L-related disorders., Brain
2018

Genotype-phenotype correlations in individuals with pathogenic RERE variants., Hum Mutat
2018

High predictive value of brain MRI imaging in primary mitochondrial respirato..., J Med Genet
2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet
2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain
2017

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo..., Brain
2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ..., Am J Hum Genet
2017

Segregation of mitochondrial DNA mutations in the human placenta: implication..., J Med Genet
2017

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat
2017

Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A
2016

Compound heterozygosity for severe and hypomorphic mutations cause non-syndr..., J Med Genet
2016

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics
2016

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and..., Am J Hum Genet
2016

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis
2016

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ..., Am J Hum Genet
2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
2015

High incidence and variable clinical outcome of cardiac hypertrophy due to AC..., Eur J Hum Genet
2015

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci
2014

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet
2014

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ..., Am J Hum Genet
2009

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive..., Am J Hum Genet
2008

Confirmation of RAX gene involvement in human anophthalmia., Clin Genet

Presentation

About

Scientific Publications

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorp..., Am J Med Genet A

Deciphering the genetic basis of developmental language disorder in children ..., Mol Autism

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorde..., Eur J Med Genet

Next generation phenotyping for diagnosis and phenotype-genotype correlations..., Sci Rep

Identifying interindividual variability of social perception and associated b..., Oxford University Press (OUP)

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC

Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome..., Wiley

An automatic facial landmarking for children with rare diseases., Am J Med Genet A

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley

Natural history of Myhre syndrome., Orphanet J Rare Dis

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or b..., J Med Genet

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term ou..., Epilepsia

PRPS1 loss-of-function variants, from isolated hearing loss to severe congeni..., Eur J Med Genet

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet

Clinical, neuroimaging and biochemical findings in patients and patient fibro..., Hum Mutat

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein..., Hum Mol Genet

Anatomical and functional abnormalities on MRI in kabuki syndrome., Neuroimage Clin

Inhibition of mitochondrial translation in fibroblasts from a patient express..., Hum Mutat

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain

Basal exon skipping and nonsense-associated altered splicing allows bypassing..., Hum Mol Genet

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso..., Am J Hum Genet

Reply: The expanding neurological phenotype of DNM1L-related disorders., Brain

Genotype-phenotype correlations in individuals with pathogenic RERE variants., Hum Mutat

High predictive value of brain MRI imaging in primary mitochondrial respirato..., J Med Genet

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo..., Brain

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ..., Am J Hum Genet

Segregation of mitochondrial DNA mutations in the human placenta: implication..., J Med Genet

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat

Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A

Compound heterozygosity for severe and hypomorphic mutations cause non-syndr..., J Med Genet

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and..., Am J Hum Genet

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ..., Am J Hum Genet

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet

High incidence and variable clinical outcome of cardiac hypertrophy due to AC..., Eur J Hum Genet

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ..., Am J Hum Genet

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive..., Am J Hum Genet

Confirmation of RAX gene involvement in human anophthalmia., Clin Genet