SMT3A,a Human Homologue of theS. cerevisiae SMT3Gene, Maps to Chromosome 21qter and Defines a Novel Gene Family

Down syndrome phenotypes: the consequences of chromosomal imbalance.

Julie R. Korenberg, X N Chen, Roberton D. Schipper et al. · Proceedings of the National Academy of Sciences · 1994 · 788 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +13

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

L Pennacchio, Anna‐Elina Lehesjoki, Nancy Stone et al. · Science · 1996 · 539 citations

Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

Jean Maurice Delabar, Didier Theophile, Zohra Rahmani et al. · European Journal of Human Genetics · 1993 · 444 citations

Down Syndrome, Chromatin, Developmental Biology +10

Evidence that the MIF2 gene of Saccharomyces cerevisiae encodes a centromere protein with homology to the mammalian centromere protein CENP-C.

Pamela B. Meluh, Douglas Koshland · Molecular Biology of the Cell · 1995 · 426 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +18

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.

Alan Buckler, David Chang, Sharon Graw et al. · Proceedings of the National Academy of Sciences · 1991 · 421 citations · Full text

Genetics, Rna Splicing, Molecular Biology +20