Saskia Seland

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

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

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

Michael Zeschnigk, Beate Albrecht, Karin Buiting et al. · European Journal of Human Genetics · 2007 · 120 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +7

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

Vera Riehmer, Florian Erger, Peter Herkenrath et al. · American Journal of Medical Genetics Part A · 2017 · 49 citations

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

Dagmar Wieczorek, Blanca Gener, Ma Jesús Martínez González et al. · American Journal of Medical Genetics Part A · 2009 · 36 citations

Developmental Anomaly, Choanal Atresia, Treacher Collins +15

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

Solaf M. Elsayed, Jennifer B. Phillips, Raoul Heller et al. · Human Molecular Genetics · 2015 · 33 citations