Töpf, Ana

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Soemedi, R., Wilson, I. J., Bentham, J., Darlay, R., Töpf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., et al. (2012) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Rodríguez Cruz, P. M., Cossins, J., de Paula Estephan, E., Munell, F., Selby, K., Hirano, M., Maroofin, R., Mehrjardi, M. Y. V., Chow, G., Carr, A., et al. (2019) · Brain

Myasthenia Gravis and ThymomaMuscle Physiology and Disorders

Cited by 51

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

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