Aurelie Coussement

Paris, France

Last Updated: 09/26/2026

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Found 20 publications

What are circulating nucleic acids?

What are circulating nucleic acids?

Journal: Annales d'endocrinologie

Published: April 09, 2026

Cohort of increased nuchal translucency in the first trimester without pathogenic variant on chromosomal microarray analysis: Outcomes for fetuses, neonates, and at the age of 2.

Cohort of increased nuchal translucency in the first trimester without pathogenic variant on chromosomal microarray analysis: Outcomes for fetuses, neonates, and at the age of 2.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: September 29, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine

Published: May 20, 2025

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Journal: Clinical genetics

Published: April 12, 2024

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Journal: European journal of human genetics : EJHG

Published: September 03, 2023

Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells.

Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells.

Journal: Stem cell research

Published: August 04, 2023

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Journal: Birth defects research

Published: November 22, 2022

Contribution of amniocentesis in fetuses small for gestational age without other sonographic signs.

Contribution of amniocentesis in fetuses small for gestational age without other sonographic signs.

Journal: Journal of gynecology obstetrics and human reproduction

Published: November 17, 2022

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

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Journal: Prenatal diagnosis

Published: January 27, 2019

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Journal: Journal of assisted reproduction and genetics

Published: November 15, 2018

Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.

Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.

Journal: BMC health services research

Published: October 03, 2018

Showing 1-12 of 20

Last Updated: 09/26/2026