Sebastien Moutton

Dijon, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 105 publications

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 10, 2025

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

RICTOR variants are associated with neurodevelopmental disorders.

RICTOR variants are associated with neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: August 01, 2024

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Journal: European journal of human genetics : EJHG

Published: July 03, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: May 09, 2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

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

Published: March 20, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: March 20, 2024

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

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

Published: November 10, 2023

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Journal: Prenatal diagnosis

Published: October 19, 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Research square

Published: October 16, 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Nature communications

Published: September 01, 2023

Showing 1-12 of 105

Last Updated: 09/26/2026