Francoise Devillard

Grenoble, France

Last Updated: 09/26/2026

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Found 42 publications

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Journal: Clinical genetics

Published: June 10, 2026

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

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal: Journal of medical genetics

Published: April 02, 2024

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Journal: Prenatal diagnosis

Published: February 20, 2024

Familial KCNQ2 mutation: a psychiatric perspective.

Familial KCNQ2 mutation: a psychiatric perspective.

Journal: Psychiatric genetics

Published: December 18, 2023

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Journal: Clinical genetics

Published: March 03, 2023

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.

Journal: International journal of molecular sciences

Published: December 20, 2022

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Journal: Clinical genetics

Published: October 06, 2022

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Journal: American journal of medical genetics. Part A

Published: May 16, 2022

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Journal: Prenatal diagnosis

Published: September 03, 2021

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Journal: Human genetics

Published: August 06, 2021

Showing 1-12 of 42

Last Updated: 09/26/2026