Zuidwester

Expanding the mutation spectrum in <scp>ICF</scp> syndrome: Evidence for a gender bias in <scp>ICF2</scp>

Marlinde L. van den Boogaard, Peter Thijssen, Caner Aytekin et al. · Clinical Genetics · 2017 · 66 citations

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

Karlijn Pellikaan, Anna G. W. Rosenberg, Anja A. Kattentidt‐Mouravieva et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 49 citations · Full text

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

Sanne Steen, Sam Riedijk, J. Verhagen‐Visser et al. · Journal of Genetic Counseling · 2016 · 42 citations · Full text

Family Medicine, Genetic Testing, Psychological Impact +22

Model-Based Selection for Proton Therapy in Breast Cancer: Development of the National Indication Protocol for Proton Therapy and First Clinical Experiences

Liesbeth Boersma, M. Sattler, John H. Maduro et al. · Clinical Oncology · 2022 · 33 citations · Full text