Publications by authors named "Caroline Raynal"

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Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two Class I variants: real-world data from the French compassionate programme.
Pierre-Régis Burgel, Emmanuelle Girodon, Neeraj Sharma, Caroline Raynal, Jennifer Da Silva

EClinicalMedicine· October 2025

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Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.
Giovanni Franco, Ibrahima Ba, Nadia Nathan, Cécile Guerin, Albane Lassus, Caroline Raynal

Respirology· June 2025

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The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Pierre-Régis Burgel, Isabelle Sermet-Gaudelus, Emmanuelle Girodon, Isabelle Durieu, Véronique Houdouin, Caroline Raynal

Lancet Respir Med· November 2024

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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Brian Sperelakis-Beedham, Maureen Lopez, Emmanuelle Bourrat, Natacha Gaitch, Florence Houriez, Caroline Raynal

J Eur Acad Dermatol Venereol· May 2023

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Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Kevin W Southern, Carlo Castellani, Elise Lammertyn, Alan Smyth, Donald VanDevanter, Caroline Raynal

J Cyst Fibros· January 2023

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Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Aurelie Hatton, Anne Bergougnoux, Katarzyna Zybert, Benoit Chevalier, Myriam Mesbahi, Caroline Raynal

J Cyst Fibros· May 2022

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Exon identity influences splicing induced by exonic variants and in silico prediction efficacy.
Natacha Martin, Anne Bergougnoux, Nesrine Baatallah, Benoit Chevalier, Jessica Varilh, Caroline Raynal

J Cyst Fibros· May 2021

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Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
Nele Laudus, Marie-Pierre Audrézet, Emmanuelle Girodon, Michael A Morris, Dragica Radojkovic, Caroline Raynal

J Cyst Fibros· November 2020

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Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.
Adrien Pagin, Anne Bergougnoux, Emmanuelle Girodon, Marie-Pierre Reboul, Christelle Willoquaux, Caroline Raynal

Andrology· May 2020

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The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Souphatta Sasorith, David Baux, Anne Bergougnoux, Damien Paulet, Alan Lahure, Caroline Raynal

Hum Mutat· February 2020

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A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Claire Guissart, Frédéric Tran Mau Them, Vanessa Debant, Victoria Viart, Charlotte Dubucs, Caroline Raynal

Fetal Diagn Ther· January 2020

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Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis.
Anne Bergougnoux, Jean-Marie Jouannic, Fanny Verneau, Thierry Bienvenu, Natacha Gaitch, Caroline Raynal

Fetal Diagn Ther· December 2019

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Pitfalls in the interpretation of CFTR variants in the context of incidental findings.
Agathe Boussaroque, Anne Bergougnoux, Caroline Raynal, Marie-Pierre Audrézet, Souphatta Sasorith

Hum Mutat· December 2019

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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.
Anne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, Fanny Verneau, Antonella Telese, Caroline Raynal

Clin Chem Lab Med· June 2018

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Current and future molecular approaches in the diagnosis of cystic fibrosis.
Anne Bergougnoux, Magali Taulan-Cadars, Mireille Claustres, Caroline Raynal

Expert Rev Respir Med· May 2018

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CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Mireille Claustres, Corinne Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Caroline Raynal

Hum Mutat· October 2017

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A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.
Anne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, Jean-Pierre Altieri, Fanny Verneau, Caroline Raynal

J Cyst Fibros· May 2016

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Anne Girardet, Victoria Viart, Stéphanie Plaza, Gemma Daina, Martine De Rycke, Caroline Raynal

Eur J Hum Genet· April 2016

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Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Jennifer Bonini, Jessica Varilh, Caroline Raynal, Corinne Thèze, Emmanuelle Beyne

Genet Med· October 2015

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Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.
Claire Guissart, Vanessa Debant, Marie Desgeorges, Corinne Bareil, Caroline Raynal

Clin Chem Lab Med· February 2015

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A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Anne Bergougnoux, Isabelle Rivals, Alessandro Liquori, Caroline Raynal, Jessica Varilh

Epigenetics· July 2014

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A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
Caroline Raynal, David Baux, Corinne Theze, Corinne Bareil, Magali Taulan

Hum Mutat· May 2013

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Pregnane X Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation.
Caroline Raynal, Jean-Marc Pascussi, Géraldine Leguelinel, Cyril Breuker, Jovana Kantar

Mol Cancer· March 2010

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High-resolution melting analysis of sequence variations in the cytidine deaminase gene (CDA) in patients with cancer treated with gemcitabine.
Caroline Raynal, Joseph Ciccolini, Cédric Mercier, Jean-Christophe Boyer, Anne Polge

Ther Drug Monit· February 2010

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Cytidine deaminase residual activity in serum is a predictive marker of early severe toxicities in adults after gemcitabine-based chemotherapies.
Joseph Ciccolini, Laetitia Dahan, Nicolas André, Alexandre Evrard, Muriel Duluc, Caroline Raynal

J Clin Oncol· January 2010

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