D. Abdin

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

E. Schröck, A. Rump, A. Tzschach, 2019, European journal of medical genetics.

Parental mosaicism in epilepsies due to alleged de novo variants

J. Hentschel, R. Møller, D. Pal, 2019, Epilepsia.

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

B. Weschke, M. Seifert, A. Kaindl, 2020, Journal of Human Genetics.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Kiely N. James, Dillon Y. Chen, G. Mancini, 2019, American journal of human genetics.

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia

R. Hennekam, V. Kinsler, N. Di Donato, 2020, The British journal of dermatology.