M. Wenzel

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

D. Wieczorek, T. Eggermann, B. Horsthemke, 2017, European Journal of Human Genetics.

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

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

J. Rosenfeld, B. Graham, Y. Kwon, 2020, American journal of human genetics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

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

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

T. Meitinger, I. Krägeloh-Mann, R. Płoski, 2020, Brain : a journal of neurology.

NR4A2 and Dystonia with Dopa Responsiveness

J. Winkelmann, M. Zech, M. Wenzel, 2021, Movement disorders : official journal of the Movement Disorder Society.

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

H. Fröhlich, Alexej Knaus, N. Fleischer, 2021, medRxiv.