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Page 1
Rapid Large-Scale COVID-19 Testing During Shortages.
Beetz C, Skrahina V, Förster TM, Gaber H, Paul JJ, Curado F, Rolfs A, Bauer P, Schäfer S, Weckesser V, Lieu V, Radefeldt M, Pöppel C, Krake S, Kandaswamy KK, Bruesehafer K, Vogel F. Beetz C, et al. Among authors: kandaswamy kk. Diagnostics (Basel). 2020 Jul 8;10(7):464. doi: 10.3390/diagnostics10070464. Diagnostics (Basel). 2020. PMID: 32650631 Free PMC article.
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D, Weiss ME, Köster J, Papachristos EB, Werber M, Kandaswamy KK, Marais A, Eichler S, Creed J, Baysal E, Jaber IY, Mehaney DA, Farra C, Rolfs A. Trujillano D, et al. Among authors: kandaswamy kk. Mol Genet Genomic Med. 2015 Sep;3(5):396-403. doi: 10.1002/mgg3.149. Epub 2015 Apr 16. Mol Genet Genomic Med. 2015. PMID: 26436105 Free PMC article.
Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P. Baldi C, et al. Among authors: kandaswamy kk. Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. Clin Genet. 2018. PMID: 29388673
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. Among authors: kandaswamy kk. 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.
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Trinh J, et al. Among authors: kandaswamy kk. J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20. J Neurol. 2020. PMID: 31745726
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
Rocha ME, Silveira TRD, Sasaki E, Sás DM, Lourenço CM, Kandaswamy KK, Beetz C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM. Rocha ME, et al. Among authors: kandaswamy kk. Eur J Hum Genet. 2020 Mar;28(3):367-372. doi: 10.1038/s41431-019-0558-3. Epub 2019 Dec 10. Eur J Hum Genet. 2020. PMID: 31822863 Free PMC article.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: kandaswamy kk. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
30 results