Gabriele Hildebrand

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

D. Horn, M. Holtgrewe, K. Sperling, 2022, Human Genetics.

The Fanconi anemia group A protein modulates homologous repair of DNA double-strand breaks in mammalian cells.

Z. Herceg, Zhao-Qi Wang, I. Demuth, 2005, Carcinogenesis.

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

S. Mundlos, J. Goldmann, M. Holtgrewe, 2018, Scientific Reports.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

Z. Herceg, Zhao-Qi Wang, I. Demuth, 2004, Human molecular genetics.

Nibrin functions in Ig class-switch recombination.

Andreas Radbruch, Zhao-Qi Wang, I. Demuth, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Novel noncanonical splice site variant causes mild CHD7‐related disorder with variable intrafamilial expressivity

D. Horn, M. Bloching, S. Lyutenski, 2023, American journal of medical genetics. Part A.

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

A. Nussenzweig, K. Sperling, A. Parplys, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.