Wilhelmina S. Kerstjens‐Frederikse

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse et al. · Human Mutation · 2007 · 209 citations

Slc2a10 Mutations, Genetics, Vascular Malformation +19

<i>TBX4</i> mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Wilhelmina S. Kerstjens‐Frederikse, Ernie M.H.F. Bongers, Marcus T.R. Roofthooft et al. · Journal of Medical Genetics · 2013 · 202 citations · Full text

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M. Doornbos, Birgit Sikkema‐Raddatz, Claudia A.L. Ruijvenkamp et al. · European Journal of Medical Genetics · 2009 · 167 citations

Breakpoints 1, Psychopathology, Psychiatry +3

Rapid Targeted Genomics in Critically Ill Newborns

Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman et al. · PEDIATRICS · 2017 · 148 citations · Full text

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert et al. · Nature Communications · 2019 · 147 citations · Full text