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 (87)
Expanding the spectrum of WDR62 mutations : description of new cases (2020)
Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al.
Conference contribution
SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders (2020)
Fliedner A, Kirchner P, Agre KE, De Graaf-Van De Laar I, Clarke MD, Davis-Keppen L, Ekici AB, et al.
Conference contribution
Germline variants in transcription factor HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (2020)
Van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, et al.
Conference contribution
Common RUNX3 missense variant contributes to psoriatic arthritis by affecting splicing and modifying signaling, activation and differentiation of T-cells (2020)
Hüffmeier U, Löhr S, Uebe S, Popp B, Bowes J, Kirchner P, Giardina E, et al.
Conference contribution
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