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

Year Number of Results
2009 2
2013 1
2015 2
2016 2
2017 3
2018 1
2019 6
2020 8
2021 5
2022 6
2023 7
2024 1

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37 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: cozma c. 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.
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: cozma c. 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.
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P, Pardo LM, Pereira C, Schroeder S, Vagiri D, Almeida LS, Juaristi C, Hosny H, Loh CCY, Leubauer A, Torres Morales G, Oppermann S, Iurașcu MI, Fischer S, Steinicke TM, Viceconte N, Cozma C, Kandaswamy KK, Pinto Basto J, Böttcher T, Bauer P, Bertoli-Avella A. Guatibonza Moreno P, et al. Among authors: cozma c. Eur J Hum Genet. 2023 Oct;31(10):1108-1116. doi: 10.1038/s41431-023-01408-7. Epub 2023 Jul 11. Eur J Hum Genet. 2023. PMID: 37433892 Free PMC article.
Glucosylsphingosine is a reliable response biomarker in Gaucher disease.
Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, Eichler S, Rolfs A, Zimran A. Arkadir D, et al. Among authors: cozma c. Am J Hematol. 2018 Jun;93(6):E140-E142. doi: 10.1002/ajh.25074. Epub 2018 Mar 15. Am J Hematol. 2018. PMID: 29473199 Free article. No abstract available.
Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, Tako A, Leubauer A, Westenberger A, Cozma C, Beetz C, Bauer P, Wirth S, Rolfs A. Cullufi P, et al. Among authors: cozma c. JIMD Rep. 2020 Nov 17;57(1):52-57. doi: 10.1002/jmd2.12167. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473340 Free PMC article.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: cozma c. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F, Rösner S, Zielke S, Westphal G, Grittner U, Skrahina V, Alasel M, Malik AM, Beetz C, Böttcher T, Barel G, Sah AP, Dinur T, Anjum N, Ichraf Q, Kriouile Y, Hadipour Z, Hadipour F, Revel-Vilk S, Cozma C, Hartkamp J, Cheema H, Zimran A, Bauer P, Rolfs A; LYSO-PROOF Study Group. Curado F, et al. Among authors: cozma c. Diagnostics (Basel). 2023 Aug 30;13(17):2812. doi: 10.3390/diagnostics13172812. Diagnostics (Basel). 2023. PMID: 37685353 Free PMC article.
37 results