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Morbidity and mortality in Schaaf-Yang syndrome.
Maaß JG, Brennenstuhl H, Schaaf CP. Maaß JG, et al. Among authors: schaaf cp. Ann Transl Med. 2023 Dec 20;11(12):405. doi: 10.21037/atm-23-1718. Epub 2023 Aug 28. Ann Transl Med. 2023. PMID: 38213817 Free PMC article. No abstract available.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: schaaf cp. Genet Med. 2024 Mar;26(3):101050. doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18. Genet Med. 2024. PMID: 38126281 Free article.
NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology.
Mock A, Teleanu MV, Kreutzfeldt S, Heilig CE, Hüllein J, Möhrmann L, Jahn A, Hanf D, Kerle IA, Singh HM, Hutter B, Uhrig S, Fröhlich M, Neumann O, Hartig A, Brückmann S, Hirsch S, Grund K, Dikow N, Lipka DB, Renner M, Bhatti IA, Apostolidis L, Schlenk RF, Schaaf CP, Stenzinger A, Schröck E, Hübschmann D, Heining C, Horak P, Glimm H, Fröhling S. Mock A, et al. Among authors: schaaf cp. NPJ Precis Oncol. 2023 Oct 26;7(1):109. doi: 10.1038/s41698-023-00458-w. NPJ Precis Oncol. 2023. PMID: 37884744 Free PMC article.
[Genomic newborn screening-research approaches, challenges, and opportunities].
Brennenstuhl H, Schaaf CP. Brennenstuhl H, et al. Among authors: schaaf cp. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023 Nov;66(11):1232-1242. doi: 10.1007/s00103-023-03777-2. Epub 2023 Oct 13. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023. PMID: 37831095 Free PMC article. Review. German.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin … See abstract for full author list ➔ Lesmann H, et al. Among authors: schaaf cp. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
The German Network for Personalized Medicine to enhance patient care and translational research.
Illert AL, Stenzinger A, Bitzer M, Horak P, Gaidzik VI, Möller Y, Beha J, Öner Ö, Schmitt F, Laßmann S, Ossowski S, Schaaf CP, Hallek M, Brümmendorf TH, Albers P, Fehm T, Brossart P, Glimm H, Schadendorf D, Bleckmann A, Brandts CH, Esposito I, Mack E, Peters C, Bokemeyer C, Fröhling S, Kindler T, Algül H, Heinemann V, Döhner H, Bargou R, Ellenrieder V, Hillemanns P, Lordick F, Hochhaus A, Beckmann MW, Pukrop T, Trepel M, Sundmacher L, Wesselmann S, Nettekoven G, Kohlhuber F, Heinze O, Budczies J, Werner M, Nikolaou K, Beer AJ, Tabatabai G, Weichert W, Keilholz U, Boerries M, Kohlbacher O, Duyster J, Thimme R, Seufferlein T, Schirmacher P, Malek NP. Illert AL, et al. Among authors: schaaf cp. Nat Med. 2023 Jun;29(6):1298-1301. doi: 10.1038/s41591-023-02354-z. Nat Med. 2023. PMID: 37280276 No abstract available.
149 results