Publications by authors named "Isabelle Sabatier"

Claim this Profile
A
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Delphine Héron, Anna Gerasimenko, Lisa Frugère, Jade Ducourneau, Capucine Rossi, Isabelle Sabatier

Brain· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.
Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, Fabien Guimiot, Audrey Putoux, Isabelle Sabatier

Genes (Basel)· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Basic helix-loop-helix transcription factor monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
Carolyn Le, Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Isabelle Sabatier

medRxiv· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1-Developmental and epileptic encephalopathy and optic pathway glioma.
Sarah Barrière, Cécile Faure-Conter, Pierre Leblond, Michael Philippe, Vincent des Portes, Isabelle Sabatier

Epileptic Disord· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, J Michael Harnish, V Hemanjani Bhavana, Isabelle Sabatier

Cell Rep· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, Isabelle Sabatier

Eur J Med Genet· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Linda Pons, Isabelle Sabatier, Eudeline Alix, Marie Faoucher, Audrey Labalme

Eur J Med Genet· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Erin Torti, Boris Keren, Elizabeth E Palmer, Zehua Zhu, Alexandra Afenjar, Isabelle Sabatier

Genet Med· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Repair of Cranial Bone Defects in Children Using Synthetic Hydroxyapatite Cranioplasty (CustomBone).
Pierre-Aurélien Beuriat, Laura-Nanna Lohkamp, Alexandru Szathmari, Christophe Rousselle, Isabelle Sabatier

World Neurosurg· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Isolated Antenatal Hydrocephalus After Fetal Exposure to Misoprostol: Teratogenic Effect of the Cytotec?
Pierre-Aurelien Beuriat, Lucile Cattiaux, Laurent Guibaud, Alexandru Szathmari, Isabelle Sabatier

World Neurosurg· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Isabelle Sabatier

Am J Hum Genet· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Isabelle Sabatier

Am J Hum Genet· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Postnatal Management of Myelomeningocele: Outcome with a Multidisciplinary Team Experience.
Pierre-Aurélien Beuriat, Isabelle Poirot, Frederic Hameury, Alexandru Szathmari, Christophe Rousselle, Isabelle Sabatier

World Neurosurg· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Complete Reversibility of the Chiari Type II Malformation After Postnatal Repair of Myelomeningocele.
Pierre-Aurélien Beuriat, Alexandru Szathmari, Christophe Rousselle, Isabelle Sabatier, Federico Di Rocco

World Neurosurg· December 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Transient ischemic attack: as well a paediatric emergency].
Anna Hubert, Aurore Curie, Isabelle Sabatier, Anne Lise Poulat, Maryline Carneiro

Presse Med· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literature.
Isabelle Sabatier, Stéphane Chabrier, Amandine Brun, Laure Hees, Anne Cheylus

Pediatr Neurol· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis