Audrey Putoux

Bron, France

Last Updated: 09/26/2026

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Found 80 publications

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics
Published: December 05, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG
Published: September 19, 2025

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Journal: Genes
Published: May 20, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics
Published: January 23, 2025

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Journal: Clinical genetics
Published: November 08, 2024

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

Journal: Prenatal diagnosis
Published: October 10, 2024

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Journal: PLoS genetics
Published: July 26, 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

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Journal: European journal of human genetics : EJHG
Published: June 24, 2024
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Last Updated: 09/26/2026