Kerkhof, Jennifer

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Aref-Eshghi, E., Bend, E. G., Colaiacovo, S., Caudle, M., Chakrabarti, R., Napier, M., Brick, L., Brady, L., Carere, D. A., Levy, M. A., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesEpigenetics and DNA Methylation

Cited by 201

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

Cited by 31

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis

Rondeau, S., Huber, C., Kerkhof, J., Sadikovic, B., & Cormier-Daire, V. (2026) · European Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 0