Concepedia

Author

Céline Poirsier

Université de Reims Champagne-Ardenne

Also Known As

Celine Poirsier, Céline Poirsier, Martine Doco-Fenzy, Poirsier, Celine, Poirsier, Céline, Vincent Planche

30

Publications

476

Citations

12

H-Index

16

Concepts

All Affiliations

Université de Reims Champagne-ArdenneCentre Hospitalier Universitaire de ReimsAssistance Publique – Hôpitaux de ParisInsermHôpital Robert-Debré
CP

About

Céline Poirsier is an author at Université de Reims Champagne-Ardenne specializing in medicine, monogenic disorders, and epidemiology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

84

2

Public Health

1

1

32

3

Epidemiology

1

1

52

4

Medical Laboratory Science

1

1

52

5

Pathology

1

1

32

Céline Poirsier

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9

Publications

231

Citations

9

H-Index

YearCitations

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard,

European Journal of Human Genetics

2015

52

Report on 3 patients with 12p duplication including GRIN2B

Céline Poirsier, Emilie Landais, Nathalie Bednarek,

European Journal of Medical Genetics

2014

41

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier,

American Journal of Medical Genetics Part A

2022

32

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini,

Nature Genetics

2025

26

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of <scp><i>PDCL3</i></scp> as a novel candidate gene

Clarisse Billon, Arnaud Molin, Céline Poirsier,

Clinical Genetics

2020

24

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza,

Genome Medicine

2022

20

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

Toan Nguyen, Solveig Heide, Lucie Guilbaud,

Prenatal Diagnosis

2023

16

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Maude Grelet, Véronique Blanck, Sabine Sigaudy,

Orphanet Journal of Rare Diseases

2019

10

<i>ARF1</i>-related disorder: phenotypic and molecular spectrum

Jean‐Madeleine de Sainte Agathe, Ben Pode‐Shakked, Sophie Naudion,

Journal of Medical Genetics

2023

10

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