Anja A. Kattentidt‐Mouravieva

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

Karlijn Pellikaan, Anna G. W. Rosenberg, Anja A. Kattentidt‐Mouravieva et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 49 citations · Full text

Severe presentation of <i>WDR62</i> mutation: Is there a role for modifying genetic factors?

Cathryn Poulton, Rachel Schot, Katja Seufert et al. · American Journal of Medical Genetics Part A · 2014 · 35 citations

Missense mutations in <i>CASK,</i> coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization

Yingzhou Edward Pan, Debora Tibbe, Frederike L. Harms et al. · Journal of Neurochemistry · 2020 · 24 citations

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

Aaron D. Besterman, Thorsten Althoff, Peter Elfferich et al. · PLoS Genetics · 2021 · 20 citations · Full text