Marelle J. Bouva

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

Stephan Lobitz, Paul Telfer, Elena Cela et al. · British Journal of Haematology · 2018 · 142 citations · Full text

Neonatology, Diagnosis, Early Diagnosis +24

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser et al. · Frontiers in Cell and Developmental Biology · 2020 · 60 citations · Full text

Known and new delta globin gene mutations and their diagnostic significance.

Marelle J. Bouva, Cornelis L. Harteveld, Peter van Delft et al. · PubMed · 2006 · 48 citations

Mendelian Disorder, Genetic Disorder, Delta-globin Gene +13

Artificial intelligence

Anna Marielle B. Dy, Daniela Mennickent, E. Castro et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2023 · 47 citations · Full text

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

J.E. Dankert-Roelse, Marelle J. Bouva, Bernadette S. Jakobs et al. · Journal of Cystic Fibrosis · 2018 · 35 citations · Full text

Early Diagnosis, Molecular Diagnostic Techniques, Newborn Screening +9