Saskia Seland
University Hospital Cologne(DE)
Publications by Year
Research Areas
Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Tracheal and airway disorders, Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation
Most-Cited Works
- → Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome(2010)366 cited
- → IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia(2007)123 cited
- → A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome(2017)49 cited
- → Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome(2009)38 cited
- → Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene(2015)33 cited
- → First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome(2011)25 cited
- → Supplementary Material for: First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome(2012)
- → Front & Back Matter(2011)