De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax (2022) Schneider S, Kollges R, Stegmann JD, Thieme F, Hilger AC, Waffenschmidt L, Fazaal J, et al. Journal article, Letter Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome (2021) König AL, Sabir H, Strizek B, Gembruch U, Herberg U, Bertrand M, Grasshoff U, et al. Journal article Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes (2021) Kolvenbach CM, Van Der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, et al. Journal article Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants (2020) Souzeau E, Siggs OM, Pasutto F, Knight LSW, Perez-Jurado LA, Mcgregor L, Le Blanc S, et al. Journal article A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy (2020) Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C Journal article 7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Journal article Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway (2019) Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, et al. Journal article Mutations in WDR4 as a new cause of Galloway–Mowat syndrome (2018) Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, et al. Journal article