Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Sequence analysis of 17 NRXN1 deletions

Research output: Contribution to journalJournal articleResearch

DOI

  1. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Sequence variants in muscle tissue-related genes may determine the severity of muscle contractures in cerebral palsy

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Functional gene networks reveal distinct mechanisms segregating in migraine families

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. The Duffy-null genotype and risk of infection

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Letter to the editor regarding "Have you ever experienced a headache of any kind?"

    Research output: Contribution to journalLetterResearchpeer-review

  5. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
Genome instability plays fundamental roles in human evolution and phenotypic variation within our population. This instability leads to genomic rearrangements that are involved in a wide variety of human disorders, including congenital and neurodevelopmental disorders, and cancers. Insight into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies.
Original languageEnglish
JournalAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Volume165
Issue number1
Pages (from-to)52-61
Number of pages10
ISSN1552-4841
DOIs
Publication statusPublished - Jan 2014

ID: 42589393