Dheedene, Annelies

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

The need for transparency and good practices in the qPCR literature

Bustin, S. A., Benes, V., Garson, J., Hellemans, J., Huggett, J., Kubista, M., Mueller, R., Nolan, T., Pfaffl, M. W., Shipley, G., et al. (2013) · Nature Methods

Molecular Biology Techniques and ApplicationsMeta-analysis and systematic reviews

Cited by 281

Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 15

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care

Geysens, M., Souche, E., Baroni, M. C., Benoit, V., Beyltjens, T., Bossuyt, W., Bours, V., Crabbé, M., Croes, D., De Smet, M., et al. (2026) · Genome Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 0