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)
Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022)
Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al.
Conference contribution
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders (2022)
Gumuslu E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici AB, Yildiz EP, et al.
Conference contribution
Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022)
Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al.
Conference contribution
Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022)
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, et al.
Journal article
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations (2022)
Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, et al.
Journal article
Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany (2021)
Richter G, Borzikowsky C, Lesch W, Semler SC, Bunnik EM, Buyx A, Krawczak M
Journal article
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 (2021)
Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, et al.
Journal article
PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (2021)
Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, et al.
Journal article
Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020)
Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al.
Conference contribution
Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020)
Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al.
Conference contribution