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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 2
2003 4
2005 2
2006 3
2007 1
2008 3
2009 3
2010 3
2011 2
2012 5
2013 4
2014 2
2015 8
2016 2
2017 2
2018 4
2019 2
2020 7
2021 10
2022 6
2023 5
2024 0

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70 results

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Page 1
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: ameziane n. 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.
RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics.
Best MG, Sol N, Kooi I, Tannous J, Westerman BA, Rustenburg F, Schellen P, Verschueren H, Post E, Koster J, Ylstra B, Ameziane N, Dorsman J, Smit EF, Verheul HM, Noske DP, Reijneveld JC, Nilsson RJA, Tannous BA, Wesseling P, Wurdinger T. Best MG, et al. Among authors: ameziane n. Cancer Cell. 2015 Nov 9;28(5):666-676. doi: 10.1016/j.ccell.2015.09.018. Epub 2015 Oct 29. Cancer Cell. 2015. PMID: 26525104 Free PMC article.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: ameziane n. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 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: ameziane n. 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.
Revisiting Nature's "Unifying Patterns": A Biological Appraisal.
Lecointre G, Aish A, Améziane N, Chekchak T, Goupil C, Grandcolas P, Vincent JFV, Sun JS. Lecointre G, et al. Among authors: ameziane n. Biomimetics (Basel). 2023 Aug 13;8(4):362. doi: 10.3390/biomimetics8040362. Biomimetics (Basel). 2023. PMID: 37622967 Free PMC article. Review.
Immune dysregulation caused by homozygous mutations in CBLB.
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS. Janssen E, et al. Among authors: ameziane n. J Clin Invest. 2022 Oct 17;132(20):e154487. doi: 10.1172/JCI154487. J Clin Invest. 2022. PMID: 36006710 Free PMC article.
Reply letter to Battke et al.
Bertoli-Avella AM, Beetz C, Ameziane N, Bauer P. Bertoli-Avella AM, et al. Among authors: ameziane n. Eur J Hum Genet. 2021 May;29(5):724-725. doi: 10.1038/s41431-021-00819-8. Epub 2021 Feb 17. Eur J Hum Genet. 2021. PMID: 33597734 Free PMC article. No abstract available.
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A, Cheema HA, Hussain M, Rana NN, Rehman KU, Kumar R, Oprea G, Ameziane N, Rolfs A, Skrahina V. Skrahin A, et al. Among authors: ameziane n. Life Sci Alliance. 2023 Jan 12;6(3):e202201673. doi: 10.26508/lsa.202201673. Print 2023 Mar. Life Sci Alliance. 2023. PMID: 36635046 Free PMC article.
70 results