Maria Hoeltzenbein

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2008, American journal of human genetics.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Reinhard Ullmann, Wei Chen, Hao Hu, 2010, European Journal of Human Genetics.