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 (81)

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Abstract

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes (2022) Breuer K, Riedhammer KM, Mueller N, Schaidinger B, Dombrowsky G, Dittrich S, Zeidler S, et al. Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution Beyond founder and truncting variants in TECPR2-associated disorder (2022) Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, et al. Conference contribution EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution 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