Abeltje M. Polstra
Amsterdam University Medical Centers(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cytomegalovirus and herpesvirus research, Viral-associated cancers and disorders, Parvovirus B19 Infection Studies
Most-Cited Works
- → Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands(2009)283 cited
- → The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?(2011)119 cited
- → Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions(2009)110 cited
- → CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders(2021)63 cited
- → Dynamics of Cytomegalovirus (CMV)–Specific T Cells in HIV‐1–Infected Individuals Progressing to AIDS with CMV End‐Organ Disease(2005)62 cited
- → Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity(2014)59 cited