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Genetics
Denmark
2024
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Genetics and Molecular Biology
Denmark
2024

D-Index & Metrics

Genetics

D-Index
88
Citations
32286
World Ranking
1157
National Ranking
11

Medicine

D-Index
89
Citations
32869
World Ranking
12579
National Ranking
134

Research.com Recognitions

  • 2024 - Research.com Genetics in Denmark Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Denmark Leader Award
  • 2023 - Research.com Genetics in Denmark Leader Award
  • 2023 - Research.com Genetics and Molecular Biology in Denmark Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in Denmark Leader Award

Overview

Niels Tommerup is affiliated with the University of Copenhagen in Denmark, focusing on research in biochemistry, genetics, and molecular biology. Their work spans several interconnected domains, including genetics, molecular biology, and medicine.

The scientist's main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these broader fields, notable subfields of study are:

  • Genetics
  • Molecular Biology
  • Infectious Diseases
  • Pediatrics, Perinatology and Child Health
  • Hematology

The research topics covered by Niels Tommerup include:

  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • DNA Repair Mechanisms
  • Chromosomal and Genetic Variations
  • Genetic Syndromes and Imprinting
  • Long-Term Effects of COVID-19

Their recent papers demonstrate a focus on genetic disorders, genome sequencing, neurobiology, and COVID-19 symptoms. Recent publications include:

  • "Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients," 2021, Scientific Reports
  • "Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes," 2020, PLoS Genetics
  • "RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis," 2020, Nature Communications
  • "Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes," 2022, Nature Communications
  • "Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients," 2021, bioRxiv (Cold Spring Harbor Laboratory)

Frequent co-authors who collaborate with Niels Tommerup include:

  • Mana M. Mehrjouy
  • Sofie Bliddal
  • Karina Banasik
  • Ole Birger Pedersen
  • Janna Nissen

Publication venues where Niels Tommerup's work frequently appears consist of:

  • Cancer Genetics
  • Scientific Reports
  • Nature Communications
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genes

Best Publications

  • ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature

    Lisa G. Shaffer;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;Bernhard Zabel

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

    Fred Petrif;Rachel H. Giles;Hans G. Dauwerse;Jasper J. Saris

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

    Guo-Liang Xu;Timothy H. Bestor;Déborah Bourc'his;Chih-Lin Hsieh

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

    Kasper Lage;E Olof Karlberg;Zenia M Størling;Páll Í Ólason

  • Ancient human genome sequence of an extinct Palaeo-Eskimo

    Morten Rasmussen;Yingrui Li;Stinus Lindgreen;Jakob Skou Pedersen

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

    David E. Jensen;Monja Proctor;Sandra T. Marquis;Heather Perry Gardner

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

    Jamel Chelly;Zeynep Tümer;Tønne Tønnesen;Anne Petterson

  • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

    Rousseau F;Heitz D;Biancalana;Blumenfeld S

  • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

    James S. Sutcliffe;Mitsuyoshi Nakao;Susan Christian;Karen H. Örstavik

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

    Diego Pasini;Paul A C Cloos;Julian Walfridsson;Linda Olsson

  • MicroRNA expression in the adult mouse central nervous system

    Mads Bak;Asli Silahtaroglu;Morten Møller;Mette Christensen

  • MOLECULAR IDENTIFICATION OF A NOVEL CANDIDATE SORTING RECEPTOR PURIFIED FROM HUMAN BRAIN BY RECEPTOR-ASSOCIATED PROTEIN AFFINITY CHROMATOGRAPHY

    Claus M. Petersen;Morten S. Nielsen;Anders Nykjær;Linda Jacobsen

  • Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

    M.V. Bell;M.C. Hirst;Y. Nakahori;R.N. MacKinnon

  • Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

    Vera M. Kalscheuer;Jiong Tao;Andrew Donnelly;Georgina Hollway

  • Molecular Characterization of a Novel Human Hybrid-type Receptor That Binds the α2-Macroglobulin Receptor-associated Protein

    Linda Jacobsen;Peder Madsen;Søren K. Moestrup;Anders H. Lund

  • The phenotypic spectrum of SCN8A encephalopathy

    Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  • Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

    Heather C. Mefford;Séverine Clauin;Andrew J. Sharp;Rikke S. Moller

  • Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification.

    Asli N Silahtaroglu;Dorrit Nolting;Lars Dyrskjøt;Eugene Berezikov

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

    François Rousseau;Dominique Heitz;Valérie Biancalana;Sandra Blumenfeld

Frequent Co-Authors

Zeynep Tümer
Zeynep Tümer Copenhagen University Hospital
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Karen Brøndum-Nielsen
Karen Brøndum-Nielsen Copenhagen University Hospital
Hans Eiberg
Hans Eiberg University of Copenhagen
Vera M. Kalscheuer
Vera M. Kalscheuer Max Planck Society
Reinhard Ullmann
Reinhard Ullmann Max Planck Society
Hans-Hilger Ropers
Hans-Hilger Ropers Max Planck Society
Helle Hjalgrim
Helle Hjalgrim University of Copenhagen
Margareta Mikkelsen
Margareta Mikkelsen Kennedy Center
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia

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