S. Seland

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

T. Eggermann, G. Binder, B. Horsthemke, 2008, European Journal of Human Genetics.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

M. Westerfield, I. Ebermann, H. Bolz, 2015, Human molecular genetics.

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome

R. Heller, P. Herkenrath, B. Beck, 2017, American journal of medical genetics. Part A.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

L. Hoefsloot, D. Wieczorek, A. Haeringen, 2011, Nature Genetics.

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

D. Wieczorek, D. Lohmann, J. Beygo, 2012, Molecular Syndromology.