Damien Sanlaville

Groupement Hospitalier Est
Bron, France

Last Updated: 09/26/2026

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Found 210 publications

A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles.

A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles.

Journal: Autophagy

Published: May 20, 2026

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: November 13, 2025

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Journal: EBioMedicine

Published: October 07, 2025

Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta-Analysis.

Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta-Analysis.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: May 08, 2025

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

Journal: European journal of neurology

Published: April 22, 2025

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Journal: Journal of medical genetics

Published: April 04, 2025

A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene.

A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene.

Journal: The journal of allergy and clinical immunology. In practice

Published: March 17, 2025

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Journal: Clinical genetics

Published: January 03, 2025

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.

Journal: The New England journal of medicine

Published: October 23, 2024

Transposable element expression is associated with sex chromosome number in humans.

Transposable element expression is associated with sex chromosome number in humans.

Journal: PLoS genetics

Published: July 25, 2024

View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.

View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.

Journal: European journal of human genetics : EJHG

Published: June 24, 2024

Showing 1-12 of 210

Last Updated: 09/26/2026