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European Journal of Human Genetics : EJHG|May 26, 2018
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorderMaria Barington, Lotte Risom, Jakob Ek, et al.Plos One|September 21, 2017
Ghrelin-mediated inhibition of the TSH-stimulated function of differentiated human thyrocytes ex vivoMaria Barington, Marianne Møller Brorson, Jacob Hofman-Bang, et al.American Journal of Medical Genetics. Part A|April 11, 2024
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndromeMaria Barington, Mads Bak, Kristín Rós Kjartansdóttir, et al.Neuromuscular Disorders : NMD|June 14, 2023
Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophyMaria Barington, Morten Dunø, Ulf Birkedal, et al.American Journal of Medical Genetics. Part A|January 22, 2026
Novel MYL1 Intron Variant With Expanded PhenotypeMaria Barington, Marie Balslev-Harder, Thomas Krag, et al.Pageof 1