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Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S, Pardo LM, Bertoli-Avella AM, Skrahina V, Engel P, Schröder S, Zielske S, Bonke V, Kreth J, Westphal G, Reder F, Skobalj S, Zielke S, Bogdanovic X, Grieger P, Rennecke J, Skripuletz T, Patten M, Aßmus B, Hahn K, Rolfs A, Bauer P; TRAM study. Rösner S, et al. Among authors: bauer p. J Clin Med. 2024 Oct 17;13(20):6197. doi: 10.3390/jcm13206197. J Clin Med. 2024. PMID: 39458146 Free PMC article.
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: bauer p. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
Unmet needs in human genomic variant interpretation.
Bauer P, Karges E, Oprea G, Rolfs A. Bauer P, et al. Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 Free article. No abstract available.
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A. Bauer P, et al. Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13. Genet Med. 2019. PMID: 30100613 Free PMC article.
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings.
Skrahina V, Gaber H, Vollstedt EJ, Förster TM, Usnich T, Curado F, Brüggemann N, Paul J, Bogdanovic X, Zülbahar S, Olmedillas M, Skobalj S, Ameziane N, Bauer P, Csoti I, Koleva-Alazeh N, Grittner U, Westenberger A, Kasten M, Beetz C, Klein C, Rolfs A; ROPAD Study Group. Skrahina V, et al. Among authors: bauer p. Mov Disord. 2021 Apr;36(4):1005-1010. doi: 10.1002/mds.28416. Epub 2020 Dec 14. Mov Disord. 2021. PMID: 33314351 Free PMC article.
1,692 results