Related references
Note: Only part of the references are listed.The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders
Souphatta Sasorith et al.
HUMAN MUTATION (2020)
International perspectives on the implementation of reproductive carrier screening
Martin B. Delatycki et al.
PRENATAL DIAGNOSIS (2020)
Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature
Eva Van Steijvoort et al.
HUMAN REPRODUCTION UPDATE (2020)
The influence of CFTR complex alleles on precision therapy of cystic fibrosis
Benoit Chevalier et al.
JOURNAL OF CYSTIC FIBROSIS (2020)
Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions
Aaron C. Miller et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders
A. Pagin et al.
ARCHIVES DE PEDIATRIE (2020)
CFTR gene variants, epidemiology and molecular pathology
C. Bareil et al.
ARCHIVES DE PEDIATRIE (2020)
Genetic counseling for cystic fibrosis: A basic model with new challenges
E. Bieth et al.
ARCHIVES DE PEDIATRIE (2020)
Genomically-guided therapies: A new era for cystic fibrosis
I. Fajac et al.
ARCHIVES DE PEDIATRIE (2020)
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens
Adrien Pagin et al.
ANDROLOGY (2020)
Penetrance is a critical parameter for assessing the disease liability of CFTR variants
A. Boussaroque et al.
JOURNAL OF CYSTIC FIBROSIS (2020)
The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy
Philip M. Farrell et al.
GENES (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis
Anne Bergougnoux et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis
Anne Bergougnoux et al.
FETAL DIAGNOSIS AND THERAPY (2019)
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis
Claire Guissart et al.
FETAL DIAGNOSIS AND THERAPY (2019)
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
Felice Amato et al.
HUMAN MUTATION (2019)
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma
C. Raynal et al.
BRITISH JOURNAL OF DERMATOLOGY (2019)
Pitfalls in the interpretation of CFTR variants in the context of incidental findings
Agathe Boussaroque et al.
HUMAN MUTATION (2019)
Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations
Margarida Amaral et al.
JOURNAL OF CYSTIC FIBROSIS (2019)
Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions
Samer Hammoudeh et al.
MULTIDISCIPLINARY RESPIRATORY MEDICINE (2019)
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
Ozge Ceyhan-Birsoy et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
Functional characterization and phenotypic spectrum of three recurrent I Check for disease-causing deep intronic variants of the CFTR gene
A. Bergougnoux et al.
JOURNAL OF CYSTIC FIBROSIS (2019)
Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism
Stephanie C. M. Nijmeijer et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review
Duaa Al-Sadeq et al.
RESPIROLOGY (2019)
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR
Aurelia Gruber et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2018)
Current and future molecular approaches in the diagnosis of cystic fibrosis
Anne Bergougnoux et al.
EXPERT REVIEW OF RESPIRATORY MEDICINE (2018)
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
Philip Farrell et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Pancreatitis-Associated Genes and Pancreatic Cancer Risk: A Systematic Review and Meta-analysis
Irina Mihaela Cazacu et al.
PANCREAS (2018)
Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine
Nikhil T. Awatade et al.
FRONTIERS IN PHARMACOLOGY (2018)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
Mireille Claustres et al.
HUMAN MUTATION (2017)
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation
C. Guissart et al.
JOURNAL OF CYSTIC FIBROSIS (2017)
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Philip M. Farrell et al.
JOURNAL OF PEDIATRICS (2017)
Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators
Iwona M. Pranke et al.
SCIENTIFIC REPORTS (2017)
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus
Anne Girardet et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Cystic fibrosis on the African continent
Cheryl Stewart et al.
GENETICS IN MEDICINE (2016)
Newborn testing and screening by whole-genome sequencing
Stephen F. Kingsmore
GENETICS IN MEDICINE (2016)
Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements
Stephanie Moisan et al.
NUCLEIC ACIDS RESEARCH (2016)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants
Anne Bergougnoux et al.
JOURNAL OF CYSTIC FIBROSIS (2016)
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations
Anabela S. Ramalho et al.
JOURNAL OF CYSTIC FIBROSIS (2016)
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
Gudio Veit et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis
Jennifer Bonini et al.
GENETICS IN MEDICINE (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Fifty years of newborn screening
Bridget Wilcken et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2015)
Newborn Screening for Cystic Fibrosis in California
Martin Kharrazi et al.
PEDIATRICS (2015)
Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy
Marie Pierre Audrezet et al.
GENETICS IN MEDICINE (2015)
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
Neeraj Sharma et al.
HUMAN MUTATION (2014)
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene
Caroline Raynal et al.
HUMAN MUTATION (2013)
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
Petra Krenkova et al.
JOURNAL OF CYSTIC FIBROSIS (2013)
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Patrick R. Sosnay et al.
NATURE GENETICS (2013)
A functional CFTR assay using primary cystic fibrosis intestinal organoids
Johanna F. Dekkers et al.
NATURE MEDICINE (2013)
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients
Emmanuelle Masson et al.
PLOS ONE (2013)
β-Adrenergic Sweat Secretion as a Diagnostic Test for Cystic Fibrosis
Paul Quinton et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2012)
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes
Ayman El-Seedy et al.
HUMAN MUTATION (2012)
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
Catherine Costa et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
Recommendations for the classification of diseases as CFTR-related disorders
C. Bombieri et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier
Alexandre Hinzpeter et al.
PLOS GENETICS (2010)
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
Els Dequeker et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
Valeria Faa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
C. Thauvin-Robinet et al.
JOURNAL OF MEDICAL GENETICS (2009)
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C. Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
Hani Ratbi et al.
HUMAN REPRODUCTION (2007)
A New Large CFTR Rearrangement Illustrates the Importance of Searching for Complex Alleles
F. Niel et al.
HUMAN MUTATION (2006)
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Highest heterogeneity for cystic fibrosis:: 36 mutations account for 75% of all CF chromosomes in Turkish patients
MO Kilinc et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Share Paper
