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Niels Tommerup | Researchclopedia

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Niels Tommerup

University of Copenhagen ORCID

523

Works

25,474

Citations

80

h-index

266

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Chromosomal and Genetic Variations

Affiliations

University of Copenhagen1996–2026

Oslo University Hospital1991–1995

Centre National de la Recherche Scientifique1991–1991

Ling Tung University1987–1987

Inserm1991–1992

Top Works

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

Thomas Wagner,Jutta Wirth,et al.

19941,610 citations

Prenatal Screening and Diagnostics

Genetic Syndromes and Imprinting

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

Fred Petrif,Rachel H. Giles,et al.

19951,217 citations

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

Guoliang Xu,Timothy H. Bestor,et al.

19991,186 citations

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

Kasper Lage,E. Olof Karlberg,et al.

2007903 citations

Ancient human genome sequence of an extinct Palaeo-Eskimo

Morten Rasmussen,Yingrui Li,et al.

2010864 citations

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Jamel Chelly,Zeynep Tümer,et al.

1993727 citations

BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression

David E. Jensen,Monja L. Proctor,et al.

1998721 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

François Rousseau,Dominique Heitz,et al.

1991641 citations

JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells

Diego Pasini,Paul A. Cloos,et al.

2010568 citations