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View article: MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia
MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia Open
Objective: Ventriculomegaly is the main prenatal imaging feature for diagnosing fetal central nervous system anomalies in humans. Many ventriculomegalies can be related to genetic causes, regardless of their imaging presentations. Among th…
View article: Basic helix-loop-helix transcription factor<i>BHLHE22</i>monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Basic helix-loop-helix transcription factor<i>BHLHE22</i>monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities Open
BHLHE22 encodes a Class II basic helix-loop-helix transcription factor (bHLH). It is expressed exclusively in the retina and central nervous system (CNS), and functions as an important regulator of retinogenesis and neuronal differentiatio…
View article: Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1—Developmental and epileptic encephalopathy and optic pathway glioma
Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1—Developmental and epileptic encephalopathy and optic pathway glioma Open
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder due to a mutation in NF1 gene, resulting in phenotypically heterogeneous systemic manifestations. Patients with NF1 are prone to develop neoplasms of the c…
View article: Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases Open
View article: <i>Drosophila</i>functional screening of<i>de novo</i>variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
<i>Drosophila</i>functional screening of<i>de novo</i>variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases Open
Summary Individuals with autism spectrum disorders (ASD) exhibit an increased burden of de novo variants in a broadening range of genes. We functionally tested the effects of ASD missense variants using Drosophila through ‘humanization’ re…
View article: Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) Open
View article: Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Open
View article: A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis Open
View article: A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis Open