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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: matysiak u. 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.
[Infant with bilateral corneal opacity and aniridia].
Wagner H, Matysiak U, Lagrèze WA. Wagner H, et al. Among authors: matysiak u. Ophthalmologe. 2020 Nov;117(11):1126-1129. doi: 10.1007/s00347-020-01051-3. Ophthalmologe. 2020. PMID: 32034470 Free PMC article. German. No abstract available.
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Cammarata-Scalisi F, Matysiak U, Willoughby CE, Ruzaike G, Cárdenas Tadich A, Araya Castillo M, Zara-Chirinos C, Bracho A, Avendaño A, Jilani H, Callea M. Cammarata-Scalisi F, et al. Among authors: matysiak u. J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec. J Pediatr Genet. 2021. PMID: 38162154 Free PMC article.