Maren Wenzel

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele et al. · The American Journal of Human Genetics · 2018 · 79 citations · Full text

Disease Mechanism, Genetic Disorder, Genetics +5

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Jasmin Beygo, Alma Küchler, Gabriele Gillessen‐Kaesbach et al. · European Journal of Human Genetics · 2017 · 43 citations · Full text

Imprinted Meg8-dmr, Mendelian Disorder, Genetic Disorder +9

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Thomas Smol, Florence Petit, Amélie Piton et al. · Neurogenetics · 2018 · 42 citations

Intellectual Impairment, Genetic Disorder, Med13l-related Intellectual Disability +6

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

Chengyao Peng, Simon Dieck, Alexander Schmid et al. · NAR Genomics and Bioinformatics · 2021 · 36 citations · Full text

<i>De novo</i> stop-loss variants in <i>CLDN11</i> cause hypomyelinating leukodystrophy

Korbinian M. Riedhammer, Sylvia Stöckler, Maren Wenzel et al. · Brain · 2020 · 25 citations · Full text

Developmental Biology, Tight Junction Protein, Medicine +10