FS Collins

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

Genetic Diseases, Genome Instability, Novel Gene +10

Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Nurit Zaks, JE Balow, Elaine Mansfield et al. · Cell · 1997 · 668 citations

Mendelian Disorder, Genetic Disorder, Medicine +10

Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia [see comments]

PP Liu, A K Hajra, Cisca Wijmenga et al. · Blood · 1995 · 214 citations · Full text

Hematological Malignancy, Chromatin, Molecular Pathogenesis +9

Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes.

Deborah L. Gumucio, Heidi Heilstedt-Williamson, Todd A. Gray et al. · Molecular and Cellular Biology · 1992 · 179 citations

Genetics, Genomic Mechanism, Molecular Biology +21

Direct sequencing of enzymatically amplified human genomic DNA.

David R. Engelke, Patricia A. Hoener, FS Collins · Proceedings of the National Academy of Sciences · 1988 · 139 citations · Full text

Genetics, Oligonucleotide Primers, Dna Analysis +16