Heleen Schuring‐Blom

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt et al. · Genetics in Medicine · 2017 · 118 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal et al. · The American Journal of Human Genetics · 2022 · 97 citations · Full text

Medicine, Genetics, Obstetrics +17

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

Elisabeth M. A. Boormans, Erwin Birnie, Hajo I. J. Wildschut et al. · BMC Pregnancy and Childbirth · 2008 · 23 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy

Heleen Schuring‐Blom, Klaske D. Lichtenbelt, Karin P. M. van Galen et al. · Prenatal Diagnosis · 2016 · 22 citations · Full text

Medicine, Genetics, Obstetrics +17

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing

Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring‐Blom et al. · European Journal of Medical Genetics · 2018 · 22 citations

Life Sciences, Genetics, Molecular Genetics +16