Nathalie Boddaert

Vincent Frouin, Frédérique Frouin, Jessica Goya-Outi, 2021, 2021 43rd Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC).

Optimization of a Shape Metric Based on Information Theory Applied to Segmentation Fusion and Evaluation in Multimodal MRI for DIPG Tumor Analysis

Frédérique Frouin, Stéphanie Jehan-Besson, Régis Clouard, 2021, GSI.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature Genetics.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

Autism, the superior temporal sulcus and social perception

Nathalie Boddaert, Monica Zilbovicius, Francis Brunelle, 2006, Trends in Neurosciences.

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2007, Blood.

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Nathalie Boddaert, Arnold Munnich, Richard Redon, 2007, American journal of human genetics.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Nathalie Boddaert, Arnold Munnich, A. Munnich, 2012, Journal of Inherited Metabolic Disease.

Abnormal cortical voice processing in autism

Pascal Belin, Nathalie Boddaert, Francis Brunelle, 2004, Nature Neuroscience.

Challenges in managing epilepsy associated with focal cortical dysplasia in children

Nathalie Boddaert, Rima Nabbout, E. Wirrell, 2018, Epilepsy Research.

Functional neuroimaging and childhood autism

Nathalie Boddaert, Monica Zilbovicius, M. Zilbovicius, 2001, Pediatric Radiology.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

MRI and ultrasound fusion imaging for prenatal diagnosis.

Nathalie Boddaert, Francis Brunelle, Yves Ville, 2013, American journal of obstetrics and gynecology.

The IMAGEN study: a decade of imaging genetics in adolescents

Vincent Frouin, Semiha Aydin, Gareth J. Barker, 2020, Molecular Psychiatry.

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2009, PloS one.

Perception of complex sounds: abnormal pattern of cortical activation in autism.

Jean-Baptiste Poline, Pascal Belin, Nathalie Boddaert, 2003, The American journal of psychiatry.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Sébastien Moutton, Nathalie Boddaert, Lam Son Nguyen, 2015, European Journal of Human Genetics.

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X‐linked mental retardation syndrome

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2008, Human mutation.

[Autism and brain imaging].

Nathalie Boddaert, Monica Zilbovicius, Francis Brunelle, 2009, Bulletin de l'Academie nationale de medecine.

Computation of reliable textural indices from multimodal brain MRI: suggestions based on a study of patients with diffuse intrinsic pontine glioma

Vincent Frouin, Irène Buvat, Jessica Goya-Outi, 2018, Physics in medicine and biology.

Neuronal differentiation distinguishes supratentorial and infratentorial childhood ependymomas.

Pascale Varlet, Nathalie Boddaert, Cathy Philippe, 2010, Neuro-oncology.

Studying gaze abnormalities in autism: Which type of stimulus to use? *

Nathalie Boddaert, Monica Zilbovicius, Francis Brunelle, 2013 .

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Laureline Berteloot, Nicolas Grenier, Nathalie Boddaert, 2018, Nature.