Associated Papers
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM et al.
Pediatric Pulmonology, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The burden of cystic fibrosis in North Africa.
El Makhzen N et al.
Frontiers in Genetics, 2023
Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.
Hamouda S et al.
African Health Sciences, 2020
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM et al.
Molecular Genetics & Genomic Medicine, 2017
Cystic Fibrosis in the African Diaspora.
Stewart C et al.
Annals of the American Thoracic Society, 2017
Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.
Fredj SH et al.
Genetic Testing and Molecular Biomarkers, 2009
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes.
Shuber AP et al.
Human Molecular Genetics, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
[Prenatal diagnosis of cystic fibrosis in Tunisia. Apropos of the deltaF508 mutation].
Messaoud T et al.
La Tunisie Medicale, 1995
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
Cutting GR et al.
American Journal of Human Genetics, 1992
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