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Karen Brøndum-Nielsen

Karen Brøndum-Nielsen

D-Index & Metrics

Genetics

D-Index
53
Citations
11131
World Ranking
3726
National Ranking
37

Overview

Karen Brøndum-Nielsen is affiliated with Copenhagen University Hospital in Denmark and conducts research primarily in the fields of Biochemistry, Genetics, and Molecular Biology. Their work spans several specialized subfields including Molecular Biology, Genetics, Ophthalmology, Clinical Biochemistry, and Physiology.

The research topics covered by Karen Brøndum-Nielsen encompass:

  • Retinal Development and Disorders
  • Genetic and Kidney Cyst Diseases
  • RNA regulation and disease
  • Hedgehog Signaling Pathway Studies
  • Renal and related cancers
  • Ocular Disorders and Treatments
  • Retinal Diseases and Treatments

Frequent co-authors who have collaborated with Karen Brøndum-Nielsen include:

  • Karen Grønskov
  • Lisbeth Birk Møller
  • Zeynep Tümer
  • Cathrine Jespersgaard
  • Thomas Rosenberg

Karen Brøndum-Nielsen has published in a variety of academic journals, with works appearing in:

  • International Journal of Molecular Sciences
  • Investigative Ophthalmology & Visual Science
  • Genes
  • PLoS ONE
  • Human Molecular Genetics

Notable recent papers include:

  • BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells, 2021, International Journal of Molecular Sciences
  • A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium, 2020, Investigative Ophthalmology & Visual Science
  • Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa, 2020, Genes
  • The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model, 2022, PLoS ONE
  • A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment, 2024, Human Molecular Genetics

Best Publications

  • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    A K Ryan;J A Goodship;D I Wilson;N Philip

  • A full genome screen for autism with evidence for linkage to a region on chromosome 7q International Molecular Genetic Study of Autism Consortium

    Anthony Bailey;Amaia Hervas;Nicola Matthews;Sarah Palferman

  • Oculocutaneous albinism

    Karen Grønskov;Jakob Ek;Karen Brondum-Nielsen

  • High carrier frequency of the 35delG deafness mutation in European populations

    Paolo Gasparini;Raquel Rabionet;Guido Barbujani;Salvatore Melchionda

  • Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

    Sarah L. Nolin;W. Ted Brown;Anne Glicksman;George E. Houck

  • Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

    Jørgen H. Olsen;Johanne M. Hahnemann;Anne Lise Børresen-Dale;Karen Brøndum-Nielsen

  • Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

    Sarah Palferman;Nicola Matthews;Martha Turner;Janette Moore

  • Cornelia de Lange syndrome.

    M.I. Boyle;C. Jespersgaard;K. Brøndum-Nielsen;A.-M. Bisgaard

  • Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

    Johan Vallon-Christersson;Charmagne Cayanan;Karin Haraldsson;Niklas Loman

  • Founding BRCA1 Mutations in Hereditary Breast and Ovarian Cancer in Southern Sweden

    O. Johannsson;E. A. Ostermeyer;S. Håkansson;L. S. Friedman

  • Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

    Koenraad Devriendt;Gert Matthijs;Roeland Van Dael;Marc Gewillig

  • High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.

    E Maestrini;A T Pagnamenta;J A Lamb;J A Lamb;E Bacchelli

  • Non-Disjunction of Chromosome 18

    M Bugge;A Collins;M B Petersen;J Fisher

  • Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

    Karen Grønskov;Jørgen H. Olsen;Annie Sand;Winni Pedersen

  • Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

    W. P. Robinson;B. D. Kuchinka;F. Bernasconi;M. B. Petersen

  • Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    J. Wirth;H.G. Nothwang;S.M. van der Maarel;C. Menzel

  • Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

    Merete Bugge;Gert Bruun-Petersen;Karen Brøndum-Nielsen;Ursula Friedrich

  • 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

    N Tommerup;H Poulsen;K Brøndum-Nielsen

  • Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

    Karen Grønskov;Thomas Rosenberg;Annie Sand;Karen Brøndum-Nielsen

  • Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing.

    Anne Bine Skytte;Anne-Marie Gerdes;M K Andersen;L Sunde

Frequent Co-Authors

Zeynep Tümer
Zeynep Tümer Copenhagen University Hospital
Niels Tommerup
Niels Tommerup University of Copenhagen
Thomas Rosenberg
Thomas Rosenberg University of Copenhagen
Helle Hjalgrim
Helle Hjalgrim University of Copenhagen
Elisabeth Blennow
Elisabeth Blennow Karolinska Institute
Jørgen H. Olsen
Jørgen H. Olsen Vanderbilt University Medical Center
Vera M. Kalscheuer
Vera M. Kalscheuer Max Planck Society
Magnus Nordenskjöld
Magnus Nordenskjöld Karolinska Institute
Deborah J.G. Mackay
Deborah J.G. Mackay University of Southampton
Anne-Marie Gerdes
Anne-Marie Gerdes Copenhagen University Hospital

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