Research
Print page Print page
Switch language
  1. Rigshospitalet
  2. Researchers
  3. Karen Brøndum-Nielsen
Rigshospitalet - a part of Copenhagen University Hospital

Karen Brøndum-Nielsen

Professor, DMSci

Latest publications View all (62) »

  1. Published

    BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

    Research output: Contribution to journal › Journal article › Research › peer-review

Frequent journals View all »

  1. Ugeskrift for Laeger

    ISSNs: 0041-5782, 1603-6824

    Additional searchable ISSN (Electronic): 1399-4174

    Almindelige Danske Laegeforening, Denmark

    Journal

  2. American Journal of Medical Genetics, Part A

    ISSNs: 1552-4825, 0148-7299

    Additional searchable ISSN (Electronic): 1552-4833

    JohnWiley & Sons, Inc, United States

    Journal

  3. Clinical Genetics

    ISSNs: 0009-9163

    Additional searchable ISSN (Electronic): 1399-0004

    Wiley-Blackwell Munksgaard, United States

    Journal

  4. European Journal of Human Genetics

    ISSNs: 1018-4813

    Additional searchable ISSN (Electronic): 1476-5438

    Nature Publishing Group, United Kingdom

    Journal

  5. Stem Cell Research

    ISSNs: 1873-5061

    Additional searchable ISSN (Electronic): 1876-7753

    Elsevier BV, Netherlands

    Indexed in DOAJ

    Journal

Frequent publishers View all »

  1. FADL's Forlag

    Denmark

    Publisher

View graph of relations

Expertises

clinical genetics; congenital syndromes and chromosomal disorders including fragile X syndrome and Rett syndrome; molecular genetics of inherited eye disorders; cytogenetics; imprinting disorders; prenatal diagnosis

Main research areas

Genetics of mental retardation and visual impairment

Current research

Investigation of premutation carriers in fragile X syndrome;

Molecular genetic analyses of patients with retinal dystrophy

 

Potential conflicts of interest

None

ID: 36882327