L. B. Ousager

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO

F. Guengerich, L. Ousager, W. Griffiths, 2014, Journal of Lipid Research.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

L. Ousager, K. Brusgaard, A. Kjeldsen, 2014, Clinical genetics.

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy.

L. Ousager, S. Kjaergaard, M. Kirchhoff, 2012, European journal of medical genetics.

Long Non-Coding RNA Expression Profiles in Hereditary Haemorrhagic Telangiectasia

M. Larsen, L. Ousager, K. Brusgaard, 2014, PloS one.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

A. Pagnamenta, N. Popitsch, G. Lunter, 2023, Genome Medicine.

JP–HHT phenotype in Danish patients with SMAD4 mutations

M. Andersen, A. Gerdes, K. Brusgaard, 2016, Clinical genetics.

Disease pattern in Danish patients with Peutz-Jeghers syndrome

L. Sunde, A. Gerdes, K. Brusgaard, 2016, International Journal of Colorectal Disease.