Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk (Q48199671)

9 February 2018

title

Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk (English)

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9 February 2018

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Regine M Lim

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Ari J Silver

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Maxwell J Silver

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Carlos Borroto

4

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Brett Spurrier

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Tanya C Petrossian

6

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Jessica L Larson

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Lee M Silver

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language of work or name

English

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publication date

16 April 2015

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9 February 2018

published in

Genetics in Medicine

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volume

18

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issue

2

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page(s)

174-179

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Cystic fibrosis genetics: from molecular understanding to clinical application

cites work

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Cystic fibrosis: terminology and diagnostic algorithms

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'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

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Genetic markers and population history: Finland revisited

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The Finnish population structure A genetic and genealogical study

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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

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Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis

21 January 2018

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The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data

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A Japanese adult case of forme fruste cystic fibrosis.

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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

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A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases

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Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

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Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25880441

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2015.52

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9 February 2018

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9 February 2018