Abeltje M. Polstra

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

Ron Hochstenbach, Ellen van Binsbergen, J.J.M. Engelen et al. · European Journal of Medical Genetics · 2009 · 281 citations

Developmental Anomaly, Early Diagnosis, Workflow Consequences +9

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

Daniela Q.C.M. Barge‐Schaapveld, Saskia M. Maas, Abeltje M. Polstra et al. · American Journal of Medical Genetics Part A · 2011 · 119 citations

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

Jet Bliek, Simone Snijder, Saskia M. Maas et al. · European Journal of Medical Genetics · 2009 · 110 citations

Allelic Variant, Developmental Biology, Maternal Transmission +13

Dynamics of Cytomegalovirus (CMV)–Specific T Cells in HIV‐1–Infected Individuals Progressing to AIDS with CMV End‐Organ Disease

C. Bronke, N. Palmer, Christine A. Jansen et al. · The Journal of Infectious Diseases · 2005 · 62 citations · Full text

<i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero et al. · Brain · 2021 · 60 citations · Full text