E. Arnold

Genomic organization and cloning of the human homologue of murine Sipa-1.

M. Sawicki, N. Udar, K. Small, 1998, Gene.

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

W. Berger, A. Patrignani, I. Magyar, 2007, Human Genetics.

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders

W. Berger, C. Boileau, G. Mátyás, 2006, Human mutation.

A transcript map encompassing the multiple endocrine neoplasia type-1 (MEN1) locus on chromosome 11q13.

M. Sawicki, H. Weier, E. Srivatsan, 1997, Genomics.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Bernhard Steiner, K. Spanaus, A. Patrignani, 2010, European Journal of Human Genetics.

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Beat Steinmann, Gábor Mátyás, Marie-Claude Addor, 2009, Human mutation.

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

W. Berger, A. Patrignani, I. Magyar, 2007, Human Genetics.