Concepedia

Birgitte Bertelsen

BB

20

Publications

758

Citations

15

H-Index

2011

Active since

Affiliations

Rigshospitalet(Current)

Copenhagen University Hospital

Kennedy Center

University of Copenhagen

Glostrup Hospital

Birgitte Bertelsen is an author at Rigshospitalet specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2011–2023

20

Publications

20

A germline chromothripsis event stably segregating in 11 individuals through three generations

Birgitte Bertelsen, Lusine Nazaryan‐Petersen, Wei Sun et al. · Genetics in Medicine · 2015 · 97 citations · Full text

, , +8

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

Birgitte Bertelsen, Ida Viller Tuxen, Christina W. Yde et al. · npj Genomic Medicine · 2019 · 78 citations · Full text

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

Birgitte Bertelsen, Linea Melchior, Lars R. Jensen et al. · European Journal of Human Genetics · 2014 · 69 citations · Full text

, , +8

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

Lusine Nazaryan‐Petersen, Birgitte Bertelsen, Mads Bak et al. · Human Mutation · 2016 · 62 citations

, , +18

Three New Loci for Determining X Chromosome Inactivation Patterns

Birgitte Bertelsen, Zeynep Tümer, Kirstine Ravn · Journal of Molecular Diagnostics · 2011 · 54 citations · Full text

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