Niels Tommerup

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Thomas Wagner, Jutta Wirth, Jobst Meyer et al. · Cell · 1994 · 1.6K citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature · 1995 · 1.2K citations

Transcriptional Regulation, Rubinstein-taybi Syndrome, Mendelian Disorder +7

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

Guoliang Xu, Timothy H. Bestor, Déborah Bourc’his et al. · Nature · 1999 · 1.2K citations

Chromatin, Genome Instability, Chromosome Instability +12

A human phenome-interactome network of protein complexes implicated in genetic disorders

Kasper Lage, E. Olof Karlberg, Zenia M. Størling et al. · Nature Biotechnology · 2007 · 903 citations · Full text

Functional Genomics, Human Phenome-interactome Network, Interactomics +14

Ancient human genome sequence of an extinct Palaeo-Eskimo

Morten Rasmussen, Yingrui Li, Stinus Lindgreen et al. · Nature · 2010 · 862 citations · Full text