A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 679 citations

Medicine, Genetics, Molecular Genetics +14

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila

Daniel Bopp, Maya Burri, Stefan Baumgartner et al. · Cell · 1986 · 497 citations

Life Sciences, Genetics, Molecular Biology +14

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Rainer Ruf, Pin‐Xian Xu, Derek Silvius et al. · Proceedings of the National Academy of Sciences · 2004 · 419 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The role of <i>Pax-1</i> in axial skeleton development

Johan Wallin, Jörg Wilting, Haruhiko Koseki et al. · Development · 1994 · 357 citations

Life Sciences, Developmental Biology, Genetics +17

The paired box encodes a second DNA-binding domain in the paired homeo domain protein.

Jessica E. Treisman, Esther Harris, Claude Desplan · Genes & Development · 1991 · 345 citations · Full text

Medicine, Genetics, Molecular Biology +16