Ellen Totten

A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies

J. Kogan, B. Ticho, Lara Balay, 2016, American journal of medical genetics. Part A.

TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome

Sitao Wu, M. Janicek, H. Rana, 2018, Oncotarget.

Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6

R. Jamra, F. Hornemann, C. Roth, 2021, Clinical genetics.