Erika Leenders

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans et al. · The American Journal of Human Genetics · 2021 · 67 citations · Full text

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

D.L. Polla, Elizabeth Bhoj, Joanne Verheij et al. · Genetics in Medicine · 2020 · 37 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Genetic Disorder +8

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Meena Balasubramanian, Alexander J.M. Dingemans, Shadi Albaba et al. · European Journal of Human Genetics · 2021 · 32 citations · Full text

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Valérie Chune, Francesca Pantaleoni, Alessandro De Luca et al. · European Journal of Human Genetics · 2020 · 31 citations · Full text

Allergy, Autoimmune Disease, Particular Predisposition +5

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Aafke Engwerda, Erika Leenders, Barbara Frentz et al. · European Journal of Human Genetics · 2021 · 30 citations · Full text

Cardiomyopathy, Heart Failure, Structural Heart Disease +12