K. Rommel

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Valérie Lanneau, A. Rath, S. Pavan, 2017, PloS one.

Funding of rare disease research in Germany: a pilot study

M. Reinecke, K. Rommel, J. Schmidtke, 2011, Journal of Community Genetics.

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys‐Dietz syndrome

K. Rommel, M. Karck, J. Schmidtke, 2006, Human mutation.

Prevalence of dural ectasia in 63 gene‐mutation‐positive patients with features of Marfan syndrome type 1 and Loeys‐Dietz syndrome and report of 22 novel FBN1 mutations

K. Rommel, J. Schmidtke, M. Arslan‐Kirchner, 2009, Clinical genetics.

Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome

K. Rommel, J. Schmidtke, P. Shukla, 2006, European Journal of Human Genetics.

Mutation screening of the fibrillin‐1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

K. Rommel, M. Karck, J. Schmidtke, 2002, Human mutation.

Identification of 29 novel and nine recurrent fibrillin‐1 (FBN1) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome

K. Rommel, M. Karck, J. Schmidtke, 2005, Human mutation.

Se-atlas-cartographic representation of experts for rare diseases

Holger Storf, Wulf Pfeiffer, Tobias Hartz, 2014, Orphanet Journal of Rare Diseases.