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Journal of Clinical Medicine|February 29, 2020
Chromothripsis and DNA Repair DisordersLusine Nazaryan-Petersen, Victoria Alexandra Bjerregaard, Finn Cilius Nielsen, et al.
Human Mutation|March 2, 2016
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous RecombinationLusine Nazaryan-Petersen, Birgitte Bertelsen, Mads Bak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
A germline chromothripsis event stably segregating in 11 individuals through three generationsBirgitte Bertelsen, Lusine Nazaryan-Petersen, Wei Sun, et al.
Human Mutation|April 30, 2019
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndromeLusine Nazaryan-Petersen, Inês R Oliveira, Mana M Mehrjouy, et al.
Human Mutation|February 7, 2018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassemblyZuzana Slamova, Lusine Nazaryan-Petersen, Mana M Mehrjouy, et al.
Scientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.
European Journal of Human Genetics : EJHG|March 24, 2019
Haploinsufficiency of ARHGAP42 is associated with hypertensionAmanda S Fjorder, Malene B Rasmussen, Mana M Mehrjouy, et al.
Frontiers in Immunology|July 25, 2022
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation CallingSara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, et al.
Human Mutation|November 10, 2018
Small supernumerary marker chromosomes: A legacy of trisomy rescue?Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, et al.
Plos Genetics|November 13, 2018
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationLusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, et al.
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