R. Buchert-Lo

Genome sequencing and transcriptome profiling in twins discordant for Mayer-Rokitansky-Kuester-Hauser syndrome

O. Kohlbacher, M. Sturm, O. Riess, 2022, medRxiv.

A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

K. Kagan, M. Hoopmann, M. Sturm, 2022, Prenatal diagnosis.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.