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Store-operated calcium entry controls innate and adaptive immune cell function in inflammatory bowel disease.
Letizia M, Wang YH, Kaufmann U, Gerbeth L, Sand A, Brunkhorst M, Weidner P, Ziegler JF, Böttcher C, Schlickeiser S, Fernández C, Yamashita M, Stauderman K, Sun K, Kunkel D, Prakriya M; IBDome Researchers; Sanders A, Siegmund B, Feske S, Weidinger C. Letizia M, et al. Among authors: sanders a. EMBO Mol Med. 2022 Sep 7;14(9):e15687. doi: 10.15252/emmm.202215687. Epub 2022 Aug 2. EMBO Mol Med. 2022. PMID: 35919953 Free PMC article.
Functional analysis of structural variants in single cells using Strand-seq.
Jeong H, Grimes K, Rauwolf KK, Bruch PM, Rausch T, Hasenfeld P, Benito E, Roider T, Sabarinathan R, Porubsky D, Herbst SA, Erarslan-Uysal B, Jann JC, Marschall T, Nowak D, Bourquin JP, Kulozik AE, Dietrich S, Bornhauser B, Sanders AD, Korbel JO. Jeong H, et al. Among authors: sanders ad. Nat Biotechnol. 2023 Jun;41(6):832-844. doi: 10.1038/s41587-022-01551-4. Epub 2022 Nov 24. Nat Biotechnol. 2023. PMID: 36424487 Free PMC article.
Gaps and complex structurally variant loci in phased genome assemblies.
Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C; Human Pangenome Reference Consortium; Korbel JO, Paten B, Marschall T, Eichler EE. Porubsky D, et al. Genome Res. 2023 Apr;33(4):496-510. doi: 10.1101/gr.277334.122. Epub 2023 May 10. Genome Res. 2023. PMID: 37164484 Free PMC article.
A draft human pangenome reference.
Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, Buonaiuto S, Chang XH, Cheng H, Chu J, Colonna V, Eizenga JM, Feng X, Fischer C, Fulton RS, Garg S, Groza C, Guarracino A, Harvey WT, Heumos S, Howe K, Jain M, Lu TY, Markello C, Martin FJ, Mitchell MW, Munson KM, Mwaniki MN, Novak AM, Olsen HE, Pesout T, Porubsky D, Prins P, Sibbesen JA, Sirén J, Tomlinson C, Villani F, Vollger MR, Antonacci-Fulton LL, Baid G, Baker CA, Belyaeva A, Billis K, Carroll A, Chang PC, Cody S, Cook DE, Cook-Deegan RM, Cornejo OE, Diekhans M, Ebert P, Fairley S, Fedrigo O, Felsenfeld AL, Formenti G, Frankish A, Gao Y, Garrison NA, Giron CG, Green RE, Haggerty L, Hoekzema K, Hourlier T, Ji HP, Kenny EE, Koenig BA, Kolesnikov A, Korbel JO, Kordosky J, Koren S, Lee H, Lewis AP, Magalhães H, Marco-Sola S, Marijon P, McCartney A, McDaniel J, Mountcastle J, Nattestad M, Nurk S, Olson ND, Popejoy AB, Puiu D, Rautiainen M, Regier AA, Rhie A, Sacco S, Sanders AD, Schneider VA, Schultz BI, Shafin K, Smith MW, Sofia HJ, Abou Tayoun AN, Thibaud-Nissen F, Tricomi FF, Wagner J, Walenz B, Wood JMD, Zimin AV, Bourque G, Chaisson MJP, Flicek P, Phillippy AM, Zook JM, Eichl… See abstract for full author list ➔ Liao WW, et al. Among authors: sanders ad. Nature. 2023 May;617(7960):312-324. doi: 10.1038/s41586-023-05896-x. Epub 2023 May 10. Nature. 2023. PMID: 37165242 Free PMC article.
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q; Human Genome Structural Variation Consortium (HGSVC); Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO. Porubsky D, et al. Among authors: sanders ad. Cell. 2022 May 26;185(11):1986-2005.e26. doi: 10.1016/j.cell.2022.04.017. Epub 2022 May 6. Cell. 2022. PMID: 35525246 Free PMC article.
Inversion polymorphism in a complete human genome assembly.
Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P; Human Pangenome Reference Consortium (HPRC); Human Genome Structural Variation Consortium (HGSVC); Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE. Porubsky D, et al. Genome Biol. 2023 Apr 30;24(1):100. doi: 10.1186/s13059-023-02919-8. Genome Biol. 2023. PMID: 37122002 Free PMC article.
Alzheimer's disease-related presenilins are key to intestinal epithelial cell function and gut immune homoeostasis.
Erkert L, Gamez-Belmonte R, Kabisch M, Schödel L, Patankar JV, Gonzalez-Acera M, Mahapatro M, Bao LL, Plattner C, Kühl AA, Shen J, Serneels L, De Strooper B; TRR241 IBDome Consortium; Neurath MF, Wirtz S, Becker C. Erkert L, et al. Gut. 2024 Apr 29:gutjnl-2023-331622. doi: 10.1136/gutjnl-2023-331622. Online ahead of print. Gut. 2024. PMID: 38684238
Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC.
Zhang H, Peyton L, McCarroll A, de León Guerrerro SD, Zhang S, Gowda P, Sirkin D, El Achwah M, Duhe A, Wood WG, Jamison B, Tracy G, Pollak R, Hart RP, Pato CN, Mulle JG, Sanders AR, Pang ZP, Duan J. Zhang H, et al. Among authors: sanders ar. bioRxiv [Preprint]. 2024 Mar 19:2024.03.18.585542. doi: 10.1101/2024.03.18.585542. bioRxiv. 2024. PMID: 38562852 Free PMC article. Preprint.
1,429 results