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Page 1
Genomes in clinical care.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T. Riess O, et al. Among authors: ossowski s. NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2. NPJ Genom Med. 2024. PMID: 38485733 Free PMC article. Review.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: ossowski s. Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Online ahead of print. Brain. 2024. PMID: 38386308
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Among authors: ossowski s. Eur J Hum Genet. 2024 Feb;32(2):248. doi: 10.1038/s41431-023-01492-9. Eur J Hum Genet. 2024. PMID: 37973950 Free PMC article. No abstract available.
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis.
Eiseler K, Neppl L, Schmidt AW, Rauscher B, Ewers M, Masson E, Chen JM, Férec C, Rebours V, Grammatikopoulos T, Foskett P, Greenhalf W, Halloran C, Neoptolemos J, Haack TB, Ossowski S, Sturm M, Rosendahl J, Laumen H, Witt H. Eiseler K, et al. Among authors: ossowski s. Pancreatology. 2023 Dec;23(8):957-963. doi: 10.1016/j.pan.2023.11.002. Epub 2023 Nov 4. Pancreatology. 2023. PMID: 37949771
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.
Menzel M, Ossowski S, Kral S, Metzger P, Horak P, Marienfeld R, Boerries M, Wolter S, Ball M, Neumann O, Armeanu-Ebinger S, Schroeder C, Matysiak U, Goldschmid H, Schipperges V, Fürstberger A, Allgäuer M, Eberhardt T, Niewöhner J, Blaumeiser A, Ploeger C, Haack TB, Tay TKY, Kelemen O, Pauli T, Kirchner M, Kluck K, Ott A, Renner M, Admard J, Gschwind A, Lassmann S, Kestler H, Fend F, Illert AL, Werner M, Möller P, Seufferlein TTW, Malek N, Schirmacher P, Fröhling S, Kazdal D, Budczies J, Stenzinger A. Menzel M, et al. Among authors: ossowski s. NPJ Precis Oncol. 2023 Oct 20;7(1):106. doi: 10.1038/s41698-023-00457-x. NPJ Precis Oncol. 2023. PMID: 37864096 Free PMC article.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Among authors: ossowski s. Eur J Hum Genet. 2024 Feb;32(2):200-208. doi: 10.1038/s41431-023-01478-7. Epub 2023 Oct 19. Eur J Hum Genet. 2024. PMID: 37853102 Free PMC article.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: ossowski s. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: ossowski s. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.
Liebmann A, Admard J, Armeanu-Ebinger S, Wild H, Abele M, Gschwind A, Seibel-Kelemen O, Seitz C, Bonzheim I, Riess O, Demidov G, Sturm M, Schadeck M, Pogoda M, Bien E, Krawczyk M, Jüttner E, Mentzel T, Cesen M, Pfaff E, Kunc M, Forchhammer S, Forschner A, Leiter-Stöppke U, Eigentler TK, Schneider DT, Schroeder C, Ossowski S, Brecht IB. Liebmann A, et al. Among authors: ossowski s. EBioMedicine. 2023 Oct;96:104797. doi: 10.1016/j.ebiom.2023.104797. Epub 2023 Sep 14. EBioMedicine. 2023. PMID: 37716236 Free PMC article.
198 results