Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker, +17

The American Journal of Human Genetics

Genome InstabilityGenetic DisorderGeneticsMolecular BiologyDna-repair Endonuclease Xpf +4

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

Kerstin Knies, Shojiro Inano, Masamichi Ishiai, +3

Journal of Clinical Investigation

GeneticsGenomic MechanismMolecular BiologyCell DeathMolecular Genetics +16

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

Shojiro Inano, Koichi Sato, Y Katsuki, +11

Molecular Cell

ChromatinGenome InstabilityDna DamageGeneticsMolecular Biology +7

Clinical performance evaluation of SARS-CoV-2 rapid antigen testing in point of care usage in comparison to RT-qPCR

Isabell Wagenhäuser, Kerstin Knies, Vera Rauschenberger, +17

EBioMedicine

Virus variant–specific clinical performance of SARS coronavirus two rapid antigen tests in point-of-care use, from November 2020 to January 2022

Isabell Wagenhäuser, Kerstin Knies, Daniela Hofmann, +30

Clinical Microbiology and Infection

November 2020Virus EpidemiologyViral DiagnosticsEmerging Infectious DiseasesRapid Antigen Tests +6

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, Najim Ameziane, +4

PLoS ONE

BioinformaticsFanconi AnemiaLong-read SequencingMedicineGenetics +13

Very Low Incidence of SARS-CoV-2, Influenza and RSV but High Incidence of Rhino-, Adeno- and Endemic Coronaviruses in Children With Acute Respiratory Infection in Primary Care Pediatric Practices During the Second and Third Wave of the SARS-CoV-2 Pandemic

Géraldine Engels, Johanna Sack, Benedikt Weißbrich, +6

The Pediatric Infectious Disease Journal

Respiratory Virus ImmunityVirus EpidemiologyViral DiagnosticsPediatric Lung DiseaseCovid-19 +18

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene<i>SLX</i><i>4</i>/<i>FANCP</i>

Beatrice Schuster, Kerstin Knies, Chantal Stoepker, +5

Human Mutation

Fanconi AnemiaGenome InstabilityEngineeringSomatic VariantGenetic Disorder +13

Clinical performance evaluation of SARS-CoV-2 rapid antigen testing in point of care usage in comparison to RT-qPCR

Isabell Wagenhäuser, Kerstin Knies, Vera Rauschenberger, +17

Diagnostic VirologyViral LoadMolecular Diagnostic TechniquesPoint-of-care TestingViral Diagnostics +12