Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

Anna Byrjalsen, Thomas van Overeem Hansen, Ulrik Kristoffer Stoltze, +20

PLoS Genetics

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

Birgitte Bertelsen, Lusine Nazaryan‐Petersen, Wei Sun, +6

Genetics in Medicine

ChromatinCytogeneticsMedicineGeneticsGenetic Disorder +6

Shaping the landscape of the<i>Escherichia coli</i>chromosome: replication-transcription encounters in cells with an ectopic replication origin

Darja Ivanova, Toni S. Taylor, Sarah Smith, +7

Nucleic Acids Research

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy, +38

European Journal of Human Genetics

Photoreceptor CellSignal TransductionRetinaGeneticsNeuroscience +5

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

Christina Halgren, Nete Munk Nielsen, Lusine Nazaryan‐Petersen, +22

The American Journal of Human Genetics

Genetic TestingGeneticsGynecologyPreimplantation Genetic TestingAneuploidy +9

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Constantia Aristidou, Costas Koufaris, Athina Theodosiou, +7

PLoS ONE

EngineeringNovo TranslocationsGeneticsLinkage AnalysisPathology +20

Regulatory variants of FOXG1 in the context of its topological domain organisation

Mana M. Mehrjouy, Ana Carolina Fonseca, Nadja Ehmke, +13

European Journal of Human Genetics

Regulatory VariantsGeneticsGenomic MechanismGene CharacterizationMolecular Genetics +6

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Constantia Aristidou, Athina Theodosiou, Mads Bak, +9

PLoS ONE

De novo unbalanced translocations have a complex history/aetiology

María Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, +24

Human Genetics

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Zuzana Slamova, Lusine Nazaryan‐Petersen, Mana M. Mehrjouy, +10

Human Mutation

DnaCytogeneticsGeneticsDna AnalysisMolecular Biology +18