Annelies Dheedene
Ghent University Hospital(BE)Ghent University(BE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → The need for transparency and good practices in the qPCR literature(2013)291 cited
- → WisecondorX: improved copy number detection for routine shallow whole-genome sequencing(2018)134 cited
- → A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment(2012)134 cited
- → Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?(2018)131 cited
- → Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans(2013)126 cited
- → Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients(2017)126 cited
- → Outcome of publicly funded nationwide first-tier noninvasive prenatal screening(2021)125 cited
- → Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy(2019)105 cited
- → Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges(2014)99 cited