Aleksandra Jezela‐Stanek

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer et al. · PLoS Genetics · 2017 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Piekutowska‐Abramczuk et al. · European Journal of Paediatric Neurology · 2016 · 51 citations

Life Sciences, Genetics, Molecular Genetics +16

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Michael Bauer, Uwe Kölsch, Renate Krüger et al. · Journal of Clinical Immunology · 2015 · 48 citations · Full text

Life Sciences, Genetics, Immunology +14

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri et al. · Human Genetics · 2021 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17