Phenotypic and genetic characterization of patients with features of “nonclassic” forms of cystic fibrosis

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Mutations in SBDS are associated with Shwachman–Diamond syndrome

Graeme R.B. Boocock, Jodi Morrison, M. Popović et al. · Nature Genetics · 2002 · 795 citations

Life Sciences, Genetics, Molecular Genetics +7

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF₅₀₈)

Eitan Kerem, Mary Corey, Batsheva Kerem et al. · New England Journal of Medicine · 1990 · 732 citations · Full text

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Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

Hedy Ginzberg, Janey Shin, Lynda Ellis et al. · The Journal of Pediatrics · 1999 · 239 citations

Life Sciences, Genetics, Human Genetics +4

Variant Cystic Fibrosis Phenotypes in the Absence of<i>CFTR</i>Mutations

Joshua D. Groman, Michelle E. Meyer, Robert W. Wilmott et al. · New England Journal of Medicine · 2002 · 176 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16