James Lespinasse

Chambery, France

Last Updated: 09/26/2026

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Found 38 publications

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

Identification of an episignature for the MEF2C-associated syndrome.

Identification of an episignature for the MEF2C-associated syndrome.

Journal: European journal of human genetics : EJHG

Published: March 25, 2025

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: January 24, 2024

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Journal: Clinical genetics

Published: December 03, 2023

Breast cancer risk in NF1-deleted patients.

Breast cancer risk in NF1-deleted patients.

Journal: Journal of medical genetics

Published: October 10, 2023

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Journal: American journal of medical genetics. Part A

Published: July 22, 2023

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: May 10, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal: Journal of medical genetics

Published: January 29, 2023

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Journal: Frontiers in genetics

Published: December 13, 2022

The different clinical facets of SYN1-related neurodevelopmental disorders.

The different clinical facets of SYN1-related neurodevelopmental disorders.

Journal: Frontiers in cell and developmental biology

Published: August 15, 2022

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics

Published: August 08, 2022

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Last Updated: 09/26/2026