Sara Kaffe

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Lillian Y. F. Hsu, Sara Kaffe, Edmund C. Jenkins et al. · Prenatal Diagnosis · 1992 · 199 citations

Cytogenetics, Genetics, Pathology +16

A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases

Lillian Y. F. Hsu, Sara Kaffe, Theresa E. Perlis · Prenatal Diagnosis · 1991 · 142 citations

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

V. Reid Sutton, William H. McAlister, Terry Bertin et al. · Human Genetics · 2003 · 99 citations

Biology, Chromatin, Developmental Anomaly +12

Clinical applications of comparative genomic hybridization

Brynn Levy, Teresa Dunn, Sara Kaffe et al. · Genetics in Medicine · 1998 · 73 citations

Hybridisation, Hybridization, Genetics +4

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.

M Sippola, Sara Kaffe, Darwin J. Prockop · Journal of Biological Chemistry · 1984 · 68 citations · Full text