Sebastien Schmitt

Angers, 49100, France

Last Updated: 09/26/2026

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Found 28 publications

Systematic or targeted molecular screening of SHOX gene variations in children with idiopathic short stature?

Systematic or targeted molecular screening of SHOX gene variations in children with idiopathic short stature?

Journal: Journal of the Endocrine Society

Published: November 03, 2025

Impact of Prior Exercise Practice on Disease Characteristics in Desmoplakin-Related Arrhythmogenic Left Ventricular Cardiomyopathy.

Impact of Prior Exercise Practice on Disease Characteristics in Desmoplakin-Related Arrhythmogenic Left Ventricular Cardiomyopathy.

Journal: JACC. Clinical electrophysiology

Published: November 19, 2024

Description of the Two-Dimensional Layer-Specific Strain Echocardiography Phenotype of Arrhythmogenic Left Ventricular Cardiomyopathy.

Description of the Two-Dimensional Layer-Specific Strain Echocardiography Phenotype of Arrhythmogenic Left Ventricular Cardiomyopathy.

Journal: Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography

Published: November 19, 2023

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

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

Published: December 22, 2021

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Journal: Prenatal diagnosis

Published: March 11, 2019

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Journal: American journal of human genetics

Published: August 16, 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: April 08, 2017

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: March 16, 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: November 03, 2016

Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.

Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.

Journal: Prenatal diagnosis

Published: July 15, 2016

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

Journal: Hormone research in paediatrics

Published: March 30, 2016

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

Journal: European journal of human genetics : EJHG

Published: March 28, 2016

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Last Updated: 09/26/2026