One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study

Cystic Fibrosis Transmembrane Conductance Regulator: Roles in Chronic Obstructive Pulmonary Disease

(2022) Mark Dransfield et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Clinical Phenotypes of Cystic Fibrosis Carriers

(2022) Philip M. Polgreen et al.   Annual Review of Medicine

Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women

(2022) Maria Valeria Esposito et al.   BMC CANCER

Challenges in Metabolomics-Based Tests, Biomarkers Revealed by Metabolomic Analysis, and the Promise of the Application of Metabolomics in Precision Medicine

(2022) Alessandro Di Minno et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy

(2022) Marcella Nunziato et al.   Frontiers in Medicine

Gene therapy for cystic fibrosis: Challenges and prospects

(2022) Hongshu Sui et al.   Frontiers in Pharmacology

Cardiovascular complications in cystic fibrosis: A review of the literature

(2021) T. Spencer Poore et al.   Journal of Cystic Fibrosis

Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases

(2021) Anna Wajda et al.   Journal of Clinical Medicine

Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF

(2021) Qiang Li et al.   ANDROLOGIA

Clinical complications in children with false-negative results in cystic fibrosis newborn screening

(2021) Katarzyna Zybert et al.   Jornal de Pediatria

Cystic fibrosis-related liver disease: Clinical presentations, diagnostic and monitoring approaches in the era of CFTR modulator therapies

(2021) Jérémy Dana et al.   JOURNAL OF HEPATOLOGY

Cystic fibrosis newborn screening: Five‐year experience from a tertiary care center

(2021) Halime Nayir Buyuksahin et al.   PEDIATRIC PULMONOLOGY

Increasing life expectancy in cystic fibrosis: Advances and challenges

(2021) Kimberly A. McBennett et al.   PEDIATRIC PULMONOLOGY

Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients

(2021) Fatima Domenica Elisa De Palma et al.   Diagnostics

Genetics of the congenital absence of the vas deferens

(2020) Eric Bieth et al.   HUMAN GENETICS

Cystic Fibrosis Foundation consensus guidelines for the care of individuals with advanced cystic fibrosis lung disease

(2020) Siddhartha G. Kapnadak et al.   Journal of Cystic Fibrosis

CFTR gene variants, epidemiology and molecular pathology

(2020) C. Bareil et al.   ARCHIVES DE PEDIATRIE

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

(2020) Chengquan Ma et al.   Molecular Genetics & Genomic Medicine

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

(2019) Raisa da Silva Martins et al.   Molecular Genetics & Genomic Medicine

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

(2018) Anne Bergougnoux et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

(2018) Jeannette E. Dankert-Roelse et al.   Journal of Cystic Fibrosis

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

(2017) Marcella Nunziato et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The diagnosis of cystic fibrosis

(2017) Kris De Boeck et al.   PRESSE MEDICALE

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

(2016) Martina I. Lefterova et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Exploring genomic alteration in pediatric cancer using ProteinPaint

(2016) Xin Zhou et al.   NATURE GENETICS

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic Modifiers of Liver Disease in Cystic Fibrosis

(2009) Jaclyn R. Bartlett   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION