Deborah Mackay
University of Copenhagen(DK)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Pancreatic function and diabetes, Prenatal Screening and Diagnostics, Diabetes and associated disorders
Most-Cited Works
- → Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes(2004)1,136 cited
- → Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement(2018)586 cited
- → Rho GTPases(1998)541 cited
- → Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57(2008)536 cited
- → Diagnosis and management of Silver–Russell syndrome: first international consensus statement(2016)496 cited
- → Genomic imprinting disorders: lessons on how genome, epigenome and environment interact(2019)457 cited
- → Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood