Kyra E. Stuurman

Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks et al. · American Journal of Medical Genetics Part A · 2013 · 145 citations · Full text

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Ellen A. Croonen, Willy M. Nillesen, Kyra E. Stuurman et al. · European Journal of Human Genetics · 2013 · 141 citations · Full text

Developmental Anomaly, Abnormal Ultrasound Findings, Noonan Syndrome Genes +7

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 67 citations · Full text

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Kyra E. Stuurman, Marieke Joosten, Ineke van der Burgt et al. · Journal of Medical Genetics · 2019 · 60 citations · Full text

Skeletal Langerhans cell histiocytosis in children: Permanent consequences and health‐related quality of life in long‐term survivors

Loretta M. S. Lau, Kyra E. Stuurman, Sheila Weitzman · Pediatric Blood & Cancer · 2007 · 54 citations · Full text