Bjoern Fischer

NOA1 is an essential GTPase required for mitochondrial protein synthesis

S. Mundlos, M. Vingron, M. Schuelke, 2011, Molecular biology of the cell.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1‐pyrroline‐5‐carboxylate synthase (P5CS)

S. Robertson, W. Halliday, D. Chitayat, 2011, American journal of medical genetics. Part A.

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

F. Brancati, G. Novelli, U. Kornak, 2012, American journal of medical genetics. Part A.

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

M. Kabra, S. Phadke, U. Kornak, 2010, The Indian journal of medical research.

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

D. Seelow, D. Horn, S. Mundlos, 2011, American journal of human genetics.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Gert Matthijs, Dirk Lefeber, Peter Nürnberg, 2008, Nature Genetics.