Niels Tommerup
University of Copenhagen(DK)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting
Most-Cited Works
- → Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9(1994)1,610 cited
- → Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP(1995)1,217 cited
- → Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene(1999)1,186 cited
- → A human phenome-interactome network of protein complexes implicated in genetic disorders(2007)903 cited
- → Ancient human genome sequence of an extinct Palaeo-Eskimo(2010)864 cited
- → Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein(1993)727 cited