Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis-Reference-Cited by-同舟云学术

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Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis

Published:2020-06-02 Issue:6 Volume:84 Page:463-468
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Nappo Stefania¹,Mannucci Liliana²^ORCID,Novelli Giuseppe²³⁴^ORCID,Sangiuolo Federica²⁴^ORCID,D'Apice Maria Rosaria²^ORCID,Botta Annalisa⁴^ORCID

Affiliation:

1. AORN Santobono‐Pausilipon Hospital Naples Italy

2. Medical Genetics Unit, Policlinico Tor Vergata Rome Italy

3. Neuromed IRCCS Institute Pozzilli IS Italy

4. Department of Biomedicine and Prevention Medical Genetics Section, University of Rome Tor Vergata Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12396

Reference17 articles.

1. Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis

2. Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening

3. Committee Opinion No. 691: Carrier Screening for Genetic Conditions

4. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

5. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

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1. Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment;Journal of Clinical & Translational Endocrinology;2024-06

2. Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions;Genetics in Medicine Open;2024

3. Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study;Journal of Medical Genetics;2023-10-05

4. Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis;Orphanet Journal of Rare Diseases;2023-01-17

5. A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders;npj Genomic Medicine;2022-12-19

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