Wellcome Centre for Human Genetics

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study (2024) Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, et al. Journal article A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility (2023) Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, et al. Journal article A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness (2022) Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, et al. Journal article Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies (2022) Gorski M, Rasheed H, Teumer A, Thomas LF, Graham SE, Sveinbjornsson G, Winkler TW, et al. Journal article Association of polygenic score for major depression with response to lithium in patients with bipolar disorder (2021) Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, Heilbronner U, et al. Journal article Shared genetic etiology of obesity-related traits and Barrett's esophagus/adenocarcinoma: Insights from genome-wide association studies (2020) Bohmer AC, Hecker J, Schroder J, Gharahkhani P, May A, Gerges C, Anders M, et al. Journal article Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer (2020) Kho PF, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann M, et al. Journal article Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria (2019) Teumer A, Li Y, Ghasemi S, Prins BP, Wuttke M, Hermle T, Giri A, et al. Journal article Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder (2018) de Jong S, Diniz MJA, Saloma A, Gadelha A, Santoro ML, Ota VK, Noto C, et al. Journal article Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis (2016) Gharahkhani P, Fitzgerald RC, Vaughan TL, Palles C, Gockel I, Tomlinson I, Buas MF, et al. Journal article