Agnes Guet

Colombes, 92025, France

Last Updated: 09/26/2026

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Found 14 publications

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Journal: Brain : a journal of neurology

Published: December 31, 2024

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 21, 2023

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Journal: Prenatal diagnosis

Published: December 21, 2022

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Journal: American journal of human genetics

Published: November 02, 2022

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Journal: European journal of human genetics : EJHG

Published: June 28, 2020

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Journal: Epilepsia

Published: June 05, 2020

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 11, 2020

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Journal: Human mutation

Published: April 15, 2019

Antenatal diagnosis of absence of septum pellucidum.

Antenatal diagnosis of absence of septum pellucidum.

Journal: Clinical case reports

Published: October 31, 2018

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Journal: Prenatal diagnosis

Published: February 13, 2018

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Journal: European journal of medical genetics

Published: December 22, 2017

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Journal: Clinical genetics

Published: February 10, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026