相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth
Federica Cariati et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2018)
mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity
V. Felicio et al.
CLINICAL GENETICS (2017)
The ExAC browser: displaying reference data information from over 60 000 exomes
Konrad J. Karczewski et al.
NUCLEIC ACIDS RESEARCH (2017)
Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population
Luisella Saba et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
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)
A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology
Marco Lucarelli et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2017)
DNA sequencing technologies: 2006-2016
Elaine R. Mardis
NATURE PROTOCOLS (2017)
Preimplantation genetic diagnosis for monogenic diseases
Vivian Chi Yan Lee et al.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY (2017)
The implications of CFTR structural studies for cystic fibrosis drug development
Isabelle Callebaut et al.
CURRENT OPINION IN PHARMACOLOGY (2017)
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites
Melissa Lee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Molecular Structure of the Human CFTR Ion Channel
Fangyu Liu et al.
CELL (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)
Guidelines for diagnostic next-generation sequencing
Gert Matthijs et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study
Mei W. Baker et al.
GENETICS IN MEDICINE (2016)
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population
Erin E. Hughes et al.
HUMAN MUTATION (2016)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (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)
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis
Letizia Straniero et al.
JOURNAL OF HUMAN GENETICS (2016)
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients Implications for Molecular Diagnostic Testing
Iris Schrijver et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2016)
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies
Melissa Alame et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2016)
Comparison of Nasal Potential Difference and Intestinal Current Measurements as Surrogate Markers for CFTR Function
Michael Wilschanski et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2016)
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
Gudio Veit et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California
Danieli B. Salinas et al.
PLOS ONE (2016)
Progress in therapies for cystic fibrosis
Kris De Boeck et al.
LANCET RESPIRATORY MEDICINE (2016)
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis
Adrien Pagin et al.
PLOS ONE (2016)
Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin
Sara Perlado et al.
PLOS ONE (2016)
Towards a European consensus for reporting incidental findings during clinical NGS testing
Jayne Y. Hehir-Kwa et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis
Jennifer Bonini et al.
GENETICS IN MEDICINE (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Newborn Screening for Cystic Fibrosis in California
Martin Kharrazi et al.
PEDIATRICS (2015)
Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians
Patrick R. Sosnay et al.
PEDIATRICS (2015)
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
Melissa Hill et al.
PRENATAL DIAGNOSIS (2015)
Nasal epithelial cells: a tool to study DNA methylation in airway diseases
Anne Bergougnoux et al.
EPIGENOMICS (2015)
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis
Harriet Corvol et al.
NATURE COMMUNICATIONS (2015)
Translating Sanger-Based Routine DNA Diagnostics into Generic Massive Parallel Ion Semiconductor Sequencing
Adinda Diekstra et al.
CLINICAL CHEMISTRY (2015)
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience
A. Girardet et al.
CLINICAL GENETICS (2015)
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis
Victoria Viart et al.
EUROPEAN RESPIRATORY JOURNAL (2015)
A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity
Emmanuel Debrand et al.
PLOS ONE (2015)
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing
Daniel S. Grosu et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2014)
Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities
Weili Li et al.
HUMAN GENETICS (2014)
SuSPect: Enhanced Prediction of Single Amino Acid Variant (SAV) Phenotype Using Network Features
Christopher M. Yates et al.
JOURNAL OF MOLECULAR BIOLOGY (2014)
In silico prediction of splice-altering single nucleotide variants in the human genome
Xueqiu Jian et al.
NUCLEIC ACIDS RESEARCH (2014)
A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing
Ahmad N. Abou Tayoun et al.
CLINICAL CHEMISTRY (2013)
Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease
Nathan R. Treff et al.
FERTILITY AND STERILITY (2013)
Characterization of SLC26A9 in Patients with CF-Like Lung Disease
Naziha Bakouh et al.
HUMAN MUTATION (2013)
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
D. Trujillano et al.
JOURNAL OF MEDICAL GENETICS (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (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)
Apical CFTR Expression in Human Nasal Epithelium Correlates with Lung Disease in Cystic Fibrosis
Marit Arianne van Meegen et al.
PLOS ONE (2013)
Non-invasive prenatal diagnosis of single-gene disorders from maternal blood
Ana Bustamante-Aragones et al.
GENE (2012)
Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis
David L. Masica et al.
HUMAN MUTATION (2012)
Guidelines for Splicing Analysis in Molecular Diagnosis Derived from a Set of 327 Combined In Silico/In Vitro Studies on BRCA1 and BRCA2 Variants
Claude Houdayer et al.
HUMAN MUTATION (2012)
Repetitive DNA and next-generation sequencing: computational challenges and solutions
Todd J. Treangen et al.
NATURE REVIEWS GENETICS (2012)
Prediction of Missense Mutation Functionality Depends on Both the Algorithm and Sequence Alignment Employed
Stephanie Hicks et al.
HUMAN MUTATION (2011)
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis
Lucy Costantino et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
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)
Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening
Mei W. Baker 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)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients
Lucy Costantino et al.
JOURNAL OF CYSTIC FIBROSIS (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Molecular models of the open and closed states of the whole human CFTR protein
Jean-Paul Mornon et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2009)
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)
European best practice guidelines for cystic fibrosis neonatal screening
Carlo Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2009)
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C. Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Marie-Pierre Audrezet et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2008)
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders
Corinne Bareil et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2007)
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
JL Bobadilla et al.
HUMAN MUTATION (2002)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
分享论文
