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Page 1
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: incardona p. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Efficacy of upadacitinib in a case of resistant lupus erythematosus tumidus.
Maione V, Bighetti S, Bettolini L, Incardona P, Calzavara-Pinton P. Maione V, et al. Among authors: incardona p. J Eur Acad Dermatol Venereol. 2024 Apr;38(4):e335-e336. doi: 10.1111/jdv.19604. Epub 2023 Nov 12. J Eur Acad Dermatol Venereol. 2024. PMID: 37909064 No abstract available.
Delphi expert consensus for whole slide imaging in thyroid cytopathology.
Marletta S, Salatiello M, Pantanowitz L, Bellevicine C, Bongiovanni M, Bonoldi E, De Rezende G, Fadda G, Incardona P, Munari E, Pagni F, Rossi ED, Tallini G, Troncone G, Ugolini C, Vigliar E, Eccher A. Marletta S, et al. Among authors: incardona p. Cytopathology. 2023 Nov;34(6):581-589. doi: 10.1111/cyt.13279. Epub 2023 Aug 2. Cytopathology. 2023. PMID: 37530465 Free article.
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Bainter W, Lougaris V, Wallace JG, Badran Y, Hoyos-Bachiloglu R, Peters Z, Wilkie H, Das M, Janssen E, Beano A, Farhat KB, Kam C, Bercich L, Incardona P, Villanacci V, Bondioni MP, Meini A, Baronio M, Abarzua P, Parolini S, Tabellini G, Maio S, Schmidt B, Goldsmith JD, Murphy G, Hollander G, Plebani A, Chou J, Geha RS. Bainter W, et al. Among authors: incardona p. Sci Immunol. 2021 Sep 17;6(63):eabf6723. doi: 10.1126/sciimmunol.abf6723. Epub 2021 Sep 17. Sci Immunol. 2021. PMID: 34533979 Free PMC article.
DNA methylation variations in familial female and male breast cancer.
Abeni E, Grossi I, Marchina E, Coniglio A, Incardona P, Cavalli P, Zorzi F, Chiodera PL, Paties CT, Crosatti M, De Petro G, Salvi A. Abeni E, et al. Among authors: incardona p. Oncol Lett. 2021 Jun;21(6):468. doi: 10.3892/ol.2021.12729. Epub 2021 Apr 12. Oncol Lett. 2021. PMID: 33907578 Free PMC article.
30 results