Kuechler, Alma

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., et al. (2022) · Nature Communications

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 47

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., et al. (2022) · The Journal of Pathology

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 10