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 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 145 citations

Medicine, Genetics, Obstetrics +16

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 62 citations · Full text

Medicine, Genetics, Obstetrics +17