Wellcome Centre for Human Genetics

Research facility


Location: Oxford, United Kingdom (GB) GB

ISNI: 0000000406414511

ROR: https://ror.org/01rjnta51

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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To

Abstract

Journal

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 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 MiR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis (2013) McCormick RI, Blick C, Ragoussis J, Schoedel J, Mole DR, Young AC, Selby PJ, et al. Journal article Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression (2012) Schödel J, Bardella C, Sciesielski LK, Brown JM, Pugh CW, Buckle V, Tomlinson IP, et al. Journal article High-resolution genome-wide mapping of HIF-binding sites by ChIP-seq (2011) Schödel J, Oikonomopoulos S, Ragoussis J, Pugh CW, Ratcliffe PJ, Mole DR Journal article