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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Staufner C, et al. Among authors: diwan gd. Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Genet Med. 2020. PMID: 31761904 Free article.
A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome.
Aslanyan MG, Doornbos C, Diwan GD, Anvarian Z, Beyer T, Junger K, van Beersum SEC, Russell RB, Ueffing M, Ludwig A, Boldt K, Pedersen LB, Roepman R. Aslanyan MG, et al. Among authors: diwan gd. Front Cell Dev Biol. 2023 Jan 26;11:1113656. doi: 10.3389/fcell.2023.1113656. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36776558 Free PMC article.
Shifts in mutation spectra enhance access to beneficial mutations.
Sane M, Diwan GD, Bhat BA, Wahl LM, Agashe D. Sane M, et al. Among authors: diwan gd. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2207355120. doi: 10.1073/pnas.2207355120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216547 Free PMC article.
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
André T, van Berkel AA, Singh G, Abualrous ET, Diwan GD, Schmenger T, Braun L, Malsam J, Toonen RF, Freund C, Russell RB, Verhage M, Söllner TH. André T, et al. Among authors: diwan gd. Biol Psychiatry. 2024 Mar 13:S0006-3223(24)01145-4. doi: 10.1016/j.biopsych.2024.03.007. Online ahead of print. Biol Psychiatry. 2024. PMID: 38490366 Free article.
Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions.
Schöpf J, Uhrig S, Heilig CE, Lee KS, Walther T, Carazzato A, Dobberkau AM, Weichenhan D, Plass C, Hartmann M, Diwan GD, Carrero ZI, Ball CR, Hohl T, Kindler T, Rudolph-Hähnel P, Helm D, Schneider M, Nilsson A, Øra I, Imle R, Banito A, Russell RB, Jones BC, Lipka DB, Glimm H, Hübschmann D, Hartmann W, Fröhling S, Scholl C. Schöpf J, et al. Among authors: diwan gd. Nat Commun. 2024 Jan 2;15(1):51. doi: 10.1038/s41467-023-44360-2. Nat Commun. 2024. PMID: 38168093 Free PMC article.
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