L. Ofner

Ectodomain shedding of cystinyl aminopeptidase from human placental membranes.

N. Hooper, L. Ofner, 2002, Placenta.

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

R. Ullmann, C. Windpassinger, E. Petek, 2006, Cytogenetic and Genome Research.

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

G. Gillessen‐kaesbach, C. Windpassinger, E. Petek, 2007, American journal of medical genetics. Part A.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

A. Noor, J. Vincent, Hanns Lochmüller, 2008, American journal of human genetics.

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

S. Scherer, J. Vincent, C. Windpassinger, 2006, European journal of medical genetics.

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

C. Windpassinger, E. Petek, K. Wagner, 2006, Journal of Human Genetics.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

D. Geschwind, J. Vincent, A. Schumacher, 2004, Genomics.

The C-terminal domain, but not the interchain disulphide, is required for the activity and intracellular trafficking of aminopeptidase A.

N. Hooper, L. Ofner, 2002, The Biochemical journal.