S M Curristin

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +10

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

Chin-Shyan Chu, Bruce C. Trapnell, S M Curristin et al. · Nature Genetics · 1993 · 518 citations

Life Sciences, Genetics, Molecular Genetics +13

A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis et al. · Nature Genetics · 1993 · 442 citations

Life Sciences, Genetics, Molecular Genetics +12

Identification of a putative γ-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14–q21 and mouse chromosome 4

Garry R. Cutting, S M Curristin, Huda Y. Zoghbi et al. · Genomics · 1992 · 191 citations

Life Sciences, Genetics, Molecular Genetics +8

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.

C.S. Chu, Bruce C. Trapnell, S M Curristin et al. · Journal of Clinical Investigation · 1992 · 122 citations · Full text

Life Sciences, Genetics, Molecular Biology +13