Šárka Bendová

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio et al. · Nature Communications · 2020 · 215 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations

Vera Krutilkova, Marie Trková, Julie Fleitz et al. · European Journal of Cancer · 2005 · 98 citations

Life Sciences, Genetics, Oncology +16

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

Markéta Havlovičová, Drahuše Novotná, Eduard Kočárek et al. · American Journal of Medical Genetics Part A · 2006 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 44 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal et al. · The American Journal of Human Genetics · 2021 · 43 citations · Full text

Medicine, Genetics, Molecular Genetics +17