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Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
Ellinghaus D, Folseraas T, Holm K, Ellinghaus E, Melum E, Balschun T, Laerdahl JK, Shiryaev A, Gotthardt DN, Weismüller TJ, Schramm C, Wittig M, Bergquist A, Björnsson E, Marschall HU, Vatn M, Teufel A, Rust C, Gieger C, Wichmann HE, Runz H, Sterneck M, Rupp C, Braun F, Weersma RK, Wijmenga C, Ponsioen CY, Mathew CG, Rutgeerts P, Vermeire S, Schrumpf E, Hov JR, Manns MP, Boberg KM, Schreiber S, Franke A, Karlsen TH. Ellinghaus D, et al. Among authors: runz h. Hepatology. 2013 Sep;58(3):1074-83. doi: 10.1002/hep.25977. Epub 2013 Jan 17. Hepatology. 2013. PMID: 22821403
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.
de Klein N, Tsai EA, Vochteloo M, Baird D, Huang Y, Chen CY, van Dam S, Oelen R, Deelen P, Bakker OB, El Garwany O, Ouyang Z, Marshall EE, Zavodszky MI, van Rheenen W, Bakker MK, Veldink J, Gaunt TR, Runz H, Franke L, Westra HJ. de Klein N, et al. Among authors: runz h. Nat Genet. 2023 Mar;55(3):377-388. doi: 10.1038/s41588-023-01300-6. Epub 2023 Feb 23. Nat Genet. 2023. PMID: 36823318 Free PMC article.
The impact of rare protein coding genetic variation on adult cognitive function.
Chen CY, Tian R, Ge T, Lam M, Sanchez-Andrade G, Singh T, Urpa L, Liu JZ, Sanderson M, Rowley C, Ironfield H, Fang T; Biogen Biobank Team; SUPER-Finland study; Northern Finland Intellectual Disability study; Daly M, Palotie A, Tsai EA, Huang H, Hurles ME, Gerety SS, Lencz T, Runz H. Chen CY, et al. Among authors: runz h. Nat Genet. 2023 Jun;55(6):927-938. doi: 10.1038/s41588-023-01398-8. Epub 2023 May 25. Nat Genet. 2023. PMID: 37231097 Free PMC article.
Rare genetic variants impact muscle strength.
Huang Y, Bodnar D, Chen CY, Sanchez-Andrade G, Sanderson M; Biogen Biobank Team; Shi J, Meilleur KG, Hurles ME, Gerety SS, Tsai EA, Runz H. Huang Y, et al. Among authors: runz h. Nat Commun. 2023 Jun 10;14(1):3449. doi: 10.1038/s41467-023-39247-1. Nat Commun. 2023. PMID: 37301943 Free PMC article.
TWINGEN - protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer's disease.
Vuoksimaa E, Saari TT, Aaltonen A, Aaltonen S, Herukka SK, Iso-Markku P, Kokkola T, Kyttälä A, Kärkkäinen S, Liedes H, Ollikainen M, Palviainen T, Ruotsalainen I, Toivola A, Urjansson M, Vasankari T, Vähä-Ypyä H, Forsberg MM, Hiltunen M, Jalanko A, Kälviäinen R, Kuopio T, Lähteenmäki J, Nyberg P, Männikkö M, Serpi R, Siltanen S; FinnGen; Palotie A, Kaprio J, Runz H, Julkunen V. Vuoksimaa E, et al. Among authors: runz h. medRxiv [Preprint]. 2023 Nov 7:2023.11.03.23298018. doi: 10.1101/2023.11.03.23298018. medRxiv. 2023. PMID: 37965200 Free PMC article. Preprint.
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P. Gotthardt D, et al. Among authors: runz h. Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485. Hepatology. 2008. PMID: 18781607
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
112 results