Nathalie BODDAERT | Institut Imagine

Présentation

Nathalie BODDAERT

Contact :

nathalie.boddaert@aphp.fr

À propos

Publications scientifiques

Publications

2026

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

Early neurodevelopmental brain perfusion abnormalities and functional connect..., Springer Science and Business Media LLC
2026

From variant interpretation to structural discovery: A new Zinc-binding domai..., Mitochondrion
2025

Intraoperative and long-term multimodal radiological assessment of brain MR-g..., Elsevier BV
2025

Intraoperative and long-term multimodal radiological assessment of brain MR-g..., J Neuroradiol
2024

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun
2024

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

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I..., J Exp Med
2024

Brain 18 F-FDG PET reveals cortico-subcortical hypermetabolic dysfunction in ..., EJNMMI Res
2024

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leuko..., Hum Mol Genet
2023

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

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv
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

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary..., J Clin Immunol
2023

Case Report: Zolpidem’s paradoxical restorative action: A case report of func..., Frontiers Media SA
2023

Severe hematopoietic stem cell inflammation compromises chronic granulomatous..., Cell Rep Med
2022

Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Childr..., Neuropediatrics
2022

Periodic electroencephalographic discharges and epileptic spasms involve cort..., Brain Commun
2022

Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber S..., AJNR Am J Neuroradiol
2022

Clinicopathological and molecular characterization of three cases classified ..., Acta Neuropathol
2022

The longitudinal evolution of cerebral blood flow in children with tuberous s..., Springer Science and Business Media LLC
2022

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

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet
2022

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet
2022

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelina..., Brain
2022

FGFR3 overactivation in the brain is responsible for memory impairments in Cr..., J Exp Med
2022

Central Nervous System Complications in Cystinosis: The Role of Neuroimaging, MDPI AG
2021

Variants in the MIPEP gene presenting with complex neurological phenotype wit..., Mol Genet Metab
2021

Alternative pathways for the development of lymphoid structures in humans., Proc Natl Acad Sci U S A
2021

A CBF decrease in the left supplementary motor areas: New insight into postop..., J Cereb Blood Flow Metab
2021

[A disruption of inositol phosphates metabolism causes pontocerebellar hypopl..., Med Sci (Paris)
2021

Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of hi..., Eur Radiol
2021

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder., Nat Commun
2021

Mortality and functional outcome after pediatric intracerebral hemorrhage: co..., J Neurosurg Pediatr
2021

Biallelic mutations presenting as sideroblastic anemia., Haematologica
2021

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic di..., Dev Med Child Neurol
2020

Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinat..., Lancet Child Adolesc Health
2020

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun
2020

Arterial spin labeling brain MRI study to evaluate the impact of deafness on ..., Neuroimage Clin
2020

Rest Functional Brain Maturation during the First Year of Life., Cereb Cortex
2020

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

Complete hemispherotomy leads to lateralized functional organization and lowe..., Epilepsia Open
2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
2020

Focal Areas of High Signal Intensity in Children with Neurofibromatosis Type ..., AJNR Am J Neuroradiol
2020

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

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation sy..., Neuromuscul Disord
2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
2020

Neural basis of interindividual variability in social perception in typically..., Sci Rep
2019

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)
2019

Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with S..., Cerebellum
2019

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

Central nervous system complications in adult cystinosis patients., J Inherit Metab Dis
2019

Biallelic mutations in neurofascin cause neurodevelopmental impairment and pe..., Brain
2019

Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow..., Nat Commun
2019

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet
2019

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism
2019

Neural and behavioral signature of human social perception., Sci Rep
2019

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angi..., Dev Med Child Neurol
2019

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfu..., Psychiatr Genet
2019

CT and Multimodal MR Imaging Features of Embryonal Tumors with Multilayered R..., AJNR Am J Neuroradiol
2018

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome., N Engl J Med
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

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalo..., Neurol Genet
2018

Arterial Spin Labeling and Central Precocious Puberty., Clin Neuroradiol
2018

Further refinement of COL4A1 and COL4A2 related cortical malformations., Eur J Med Genet
2018

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

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet
2018

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet
2018

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

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet
2018

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

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet
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

Type I interferon-mediated autoinflammation due to DNase II deficiency., Nat Commun
2017

Cerebral blood flow changes after radiation therapy identifies pseudoprogress..., Neuro Oncol
2017

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., 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

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc..., Nat Genet
2017

Neuroimaging evidence of brain abnormalities in mastocytosis., Transl Psychiatry
2017

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

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa..., Am J Hum Genet
2017

Multimodal Magnetic Resonance Imaging of Treatment-Induced Changes to Diffuse..., Int J Radiat Oncol Biol Phys
2017

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

A novel recurrent LIS1 splice site mutation in classic lissencephaly., Am J Med Genet A
2016

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

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

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
2016

Tuning Eye-Gaze Perception by Transitory STS Inhibition., Cereb Cortex
2015

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci
2015

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patie..., Diabetes Care
2015

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics
2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet
2014

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

Identification of a novel ARL13B variant in a Joubert syndrome-affected patie..., Eur J Hum Genet
2014

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ..., Am J Hum Genet
2013

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl..., Hum Mutat
2012

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i..., Clin Genet
2009

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp..., Hum Mutat
2009

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

Présentation

À propos

Publications scientifiques

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

Early neurodevelopmental brain perfusion abnormalities and functional connect..., Springer Science and Business Media LLC

From variant interpretation to structural discovery: A new Zinc-binding domai..., Mitochondrion

Intraoperative and long-term multimodal radiological assessment of brain MR-g..., Elsevier BV

Intraoperative and long-term multimodal radiological assessment of brain MR-g..., J Neuroradiol

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun

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

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I..., J Exp Med

Brain 18 F-FDG PET reveals cortico-subcortical hypermetabolic dysfunction in ..., EJNMMI Res

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leuko..., Hum Mol Genet

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

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv

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

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary..., J Clin Immunol

Case Report: Zolpidem’s paradoxical restorative action: A case report of func..., Frontiers Media SA

Severe hematopoietic stem cell inflammation compromises chronic granulomatous..., Cell Rep Med

Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Childr..., Neuropediatrics

Periodic electroencephalographic discharges and epileptic spasms involve cort..., Brain Commun

Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber S..., AJNR Am J Neuroradiol

Clinicopathological and molecular characterization of three cases classified ..., Acta Neuropathol

The longitudinal evolution of cerebral blood flow in children with tuberous s..., Springer Science and Business Media LLC

Natural history of Myhre syndrome., Orphanet J Rare Dis

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelina..., Brain

FGFR3 overactivation in the brain is responsible for memory impairments in Cr..., J Exp Med

Central Nervous System Complications in Cystinosis: The Role of Neuroimaging, MDPI AG

Variants in the MIPEP gene presenting with complex neurological phenotype wit..., Mol Genet Metab

Alternative pathways for the development of lymphoid structures in humans., Proc Natl Acad Sci U S A

A CBF decrease in the left supplementary motor areas: New insight into postop..., J Cereb Blood Flow Metab

[A disruption of inositol phosphates metabolism causes pontocerebellar hypopl..., Med Sci (Paris)

Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of hi..., Eur Radiol

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder., Nat Commun

Mortality and functional outcome after pediatric intracerebral hemorrhage: co..., J Neurosurg Pediatr

Biallelic mutations presenting as sideroblastic anemia., Haematologica

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic di..., Dev Med Child Neurol

Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinat..., Lancet Child Adolesc Health

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun

Arterial spin labeling brain MRI study to evaluate the impact of deafness on ..., Neuroimage Clin

Rest Functional Brain Maturation during the First Year of Life., Cereb Cortex

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

Complete hemispherotomy leads to lateralized functional organization and lowe..., Epilepsia Open

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet

Focal Areas of High Signal Intensity in Children with Neurofibromatosis Type ..., AJNR Am J Neuroradiol

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

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation sy..., Neuromuscul Disord

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet

Neural basis of interindividual variability in social perception in typically..., Sci Rep

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)

Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with S..., Cerebellum

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

Central nervous system complications in adult cystinosis patients., J Inherit Metab Dis

Biallelic mutations in neurofascin cause neurodevelopmental impairment and pe..., Brain

Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow..., Nat Commun

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

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism

Neural and behavioral signature of human social perception., Sci Rep

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angi..., Dev Med Child Neurol

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfu..., Psychiatr Genet

CT and Multimodal MR Imaging Features of Embryonal Tumors with Multilayered R..., AJNR Am J Neuroradiol

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome., N Engl J Med

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

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalo..., Neurol Genet

Arterial Spin Labeling and Central Precocious Puberty., Clin Neuroradiol

Further refinement of COL4A1 and COL4A2 related cortical malformations., Eur J Med Genet

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

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet

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

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet

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

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet

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

Type I interferon-mediated autoinflammation due to DNase II deficiency., Nat Commun