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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: rolfs a. 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.
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Alfadhel M, et al. Among authors: rolfs a. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. JIMD Rep. 2015. PMID: 25663424 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: rolfs a. 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.
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM. Hebbar M, et al. Among authors: rolfs a. Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27271431 Free PMC article. No abstract available.
424 results