Physical and Genetic Characterization Reveals a Pseudogene, an Evolutionary Junction, and Unstable Loci in Distal Xq28

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Nina S. Heiss, S. W. Knight, Tom Vulliamy et al. · Nature Genetics · 1998 · 961 citations

Life Sciences, Genetics, Molecular Genetics +4

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Delia Lakich, Haig H. Kazazian, Stylianos E. Antonarakis et al. · Nature Genetics · 1993 · 796 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

Asma Smahi, Nina S. Heiss, Petra Kioschis et al. · Nature · 2000 · 743 citations

Life Sciences, Genetics, Molecular Biology +11

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

Life Sciences, Genetics, Molecular Biology +11

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

Patricia Taillon‐Miller, Irma Bauer-Sardiña, Nancy L. Saccone et al. · Nature Genetics · 2000 · 256 citations

Life Sciences, Genetics, Molecular Genetics +14