European Journal of Human Genetics
Journal Abbreviation: EUR J HUM GENET
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (83)
Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster (2020)
Gregor A, Meerbrei T, Distel L, Gerstner T, Gupta A, Toutain A, Lynch SA, et al.
Conference contribution
Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype (2020)
Zanoni P, Steindl K, Sengupta D, Sticht H, Joset P, Baar A, Van Ravenswaaij-Arts CMA, et al.
Conference contribution
Exome Pool-Seq Reloaded (2020)
Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al.
Conference contribution
Phenotypic presentation of two additional individuals with heterozygous variants in BRSK2 (2020)
Kemmer H, Popp B, Verloes A, Horn D, Holtgrewe M, Zweier C, Ehmke N
Conference contribution
Identification and characterization of a GLMN splice site variant in a three-generation-family with glomuvenous malformations (2020)
Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M
Conference contribution
Investigating PHF13 induced infertility through single cell transcriptomics and non-vertebrate model organisms (2020)
Bosch E, Lukassen S, Gregor A, Ekici AB, Zweier C, Winterpacht A
Conference contribution
Further clinical and molecular delineation of Alazami syndrome associated with variants in LARP7 (2020)
Gumuslu E, Karaer K, Gumus E, Ekici AB, Kraus C, Reis A
Conference contribution
Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Conference contribution
Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020)
Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al.
Conference contribution
Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020)
Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C
Conference contribution