Publications by authors named "Celine Guien"

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Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.
Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune, Céline Guien

Orphanet J Rare Dis· September 2025

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Protein domains provide a new layer of information for classifying human variations in rare diseases.
Mélanie Corcuff, Marc Garibal, Jean-Pierre Desvignes, Céline Guien, Coralie Grattepanche

Front Bioinform· February 2023

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Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng

Orphanet J Rare Dis· March 2022

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Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies.
Florence Koeppel, Etienne Muller, Alexandre Harlé, Céline Guien, Pierre Sujobert

Eur J Cancer· December 2021

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Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.
Olivier Milleron, Florence Arnoult, Gabriel Delorme, Delphine Detaint, Quentin Pellenc, Celine Guien

J Am Coll Cardiol· March 2020

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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.
Pauline Romanet, Amira Mohamed, Sophie Giraud, Marie-Françoise Odou, Marie-Odile North, Céline Guien

J Clin Endocrinol Metab· March 2019

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Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.
Olivier Milleron, Jacques Ropers, Florence Arnoult, Claire Bouleti, Gabriel Delorme, Celine Guien

Circ Cardiovasc Imaging· March 2019

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The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal

Orphanet J Rare Dis· December 2018

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[OISO, automatic treatment of patients management in oncogenetics].
Céline Guien, Aurélie Fabre, Arnaud Lagarde, David Salgado, Catherine Gensollen-Thiriez

Bull Cancer· August 2017

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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Amélie Pinard, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Nadine Hanna, Céline Guien

Hum Mutat· December 2016

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Extreme multifunctional proteins identified from a human protein interaction network.
Charles E Chapple, Benoit Robisson, Lionel Spinelli, Céline Guien, Emmanuelle Becker

Nat Commun· June 2015

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