Susanne E. Boonen

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Deborah Mackay, Jonathan L A Callaway, Sophie M Marks et al. · Nature Genetics · 2008 · 538 citations

Medicine, Genetics, Molecular Genetics +12

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

Deborah Mackay, Susanne E. Boonen, Jill Clayton‐Smith et al. · Human Genetics · 2006 · 192 citations

Medicine, Endocrinology, Obstetrics +13

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog et al. · Genetics in Medicine · 2020 · 145 citations · Full text

Life Sciences, Genetics, Oncology +17

Transient Neonatal Diabetes, <i>ZFP57</i>, and Hypomethylation of Multiple Imprinted Loci

Susanne E. Boonen, Deborah Mackay, Johanne M D Hahnemann et al. · Diabetes Care · 2012 · 92 citations · Full text

Medicine, Genetics, Molecular Genetics +16