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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: Apr 23, 2024
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Cystic Fibrosis: A Review.
Thida Ong et al. JAMA 2023 329(21) 1859-1871
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Unified Airway Disease: Genetics and Epigenetics.
Brar Tripti et al. Otolaryngologic clinics of North America 2022 56(1) 23-38
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The importance of aeroallergen sensitivity in children with cystic fibrosis.
Atay Özge et al. Allergologia et immunopathologia 2022 50(S Pt 3) 1-9
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Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation.
Dolce Daniela et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
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Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.
Kanaujia Rimjhim et al. Mycopathologia 2022
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Clinical Phenotypes of Cystic Fibrosis Carriers.
Polgreen Philip M et al. Annual review of medicine 2022 73563-574
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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway Gabrielle et al. BMC medical genomics 2021 14(1) 234
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Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.
Ameratunga Rohan et al. Clinical reviews in allergy & immunology 2021
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Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guan Yuhong et al. Chest 2021 Feb
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Diagnosis of cystic fibrosis in adulthood and eligibility for novel CFTR modulator therapy.
Farley Hannah et al. Postgraduate medical journal 2021 Jan
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New Therapeutic Approaches in Cystic Fibrosis.
Fakioglu Dolunay Merve et al. Turkish journal of pharmaceutical sciences 2020 Dec 17(6) 686-697
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Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo Alice et al. Diagnostics (Basel, Switzerland) 2020 Aug 10(8)
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A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi Ruihe et al. Pediatric pulmonology 2020 Jul
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Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.
Lopez-Campos Jose Luis et al. Archivos de bronconeumologia 2020 Jul
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Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
Pagin A et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS25-eS29
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Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.
Miller Aaron C et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Dec
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Review of Cystic Fibrosis.
Goetz Danielle et al. Pediatric annals 2019 Apr 48(4) e154-e161
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Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His.
Keenan Katherine et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Sep
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Advances in managing COPD related to α 1 -antitrypsin deficiency, an under-recognized genetic disorder.
Craig Timothy J et al. Allergy 2018 Jul
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Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine.
Hersh Craig P et al. F1000Research 2017 62049
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Diagnosis of Cystic Fibrosis in Nonscreened Populations.
Sosnay Patrick R et al. The Journal of pediatrics 2017 Feb 181SS52-S57.e2
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Cystic fibrosis: a clinical view.
Castellani Carlo et al. Cellular and molecular life sciences : CMLS 2016 Oct
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The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in ireland: exploiting a national registry to understand a rare disease.
O'Brien M Emmet et al. COPD 2015 May 12 Suppl 12-9
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The national alpha-1 antitrypsin deficiency registry in poland.
Chorostowska-Wynimko Joanna et al. COPD 2015 May 12 Suppl 122-6
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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