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31 results

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Page 1
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: admard j. 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.
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Witt D, Faust U, Strobl-Wildemann G, Sturm M, Buchert R, Zuleger T, Admard J, Casadei N, Ossowski S, Haack TB, Rieß O, Schroeder C. Witt D, et al. Among authors: admard j. Mol Genet Genomic Med. 2023 Jun;11(6):e2151. doi: 10.1002/mgg3.2151. Epub 2023 Feb 9. Mol Genet Genomic Med. 2023. PMID: 36760167 Free PMC article.
Detection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse.
Mittelstadt S, Kelemen O, Admard J, Gschwind A, Koch A, Wörz S, Oberlechner E, Engler T, Bonzheim I, Staebler A, Weidner N, Stubenrauch F, Iftner T, Riess O, Schroeder C, Kommoss S, Ossowski S. Mittelstadt S, et al. Among authors: admard j. Br J Cancer. 2023 Jun;128(11):2097-2103. doi: 10.1038/s41416-023-02233-x. Epub 2023 Mar 27. Br J Cancer. 2023. PMID: 36973448 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: admard j. EBioMedicine. 2023 Oct;96:104797. doi: 10.1016/j.ebiom.2023.104797. Epub 2023 Sep 14. EBioMedicine. 2023. PMID: 37716236 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: admard j. 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.
PET/MRI and genetic intrapatient heterogeneity in head and neck cancers.
Clasen K, Leibfarth S, Hilke FJ, Admard J, Winter RM, Welz S, Gatidis S, Nann D, Ossowski S, Breuer T, la Fougère C, Nikolaou K, Riess O, Zips D, Schroeder C, Thorwarth D. Clasen K, et al. Among authors: admard j. Strahlenther Onkol. 2020 Jun;196(6):542-551. doi: 10.1007/s00066-020-01606-y. Epub 2020 Mar 24. Strahlenther Onkol. 2020. PMID: 32211941
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: admard j. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
31 results