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Year Number of Results
2003 1
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Page 1
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: sansen s. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S, Angolini E, Audi J, Bertini E, Bruno LP, Coulter J, Ferlini A, Fortunato F, Frankova V, Garnier N, Grauman Å, Gross E, Hauber B, Hansson M, Kirschner J, Knieling F, Kyosovksa G, Ottombrino S, Novelli A, Raming R, Sansen S, Saier C, Veldwijk J. Martin S, et al. Among authors: sansen s. BMJ Open. 2024 Apr 19;14(4):e081835. doi: 10.1136/bmjopen-2023-081835. BMJ Open. 2024. PMID: 38643010 Free PMC article.
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Among authors: sansen s. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
Properties of TAXI-type endoxylanase inhibitors.
Gebruers K, Brijs K, Courtin CM, Fierens K, Goesaert H, Rabijns A, Raedschelders G, Robben J, Sansen S, Sørensen JF, Van Campenhout S, Delcour JA. Gebruers K, et al. Among authors: sansen s. Biochim Biophys Acta. 2004 Feb 12;1696(2):213-21. doi: 10.1016/j.bbapap.2003.08.013. Biochim Biophys Acta. 2004. PMID: 14871662 Review.
Diagnostic strategy for females suspected of Fabry disease.
Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN, Lukacs Z, Kasper DC. Balendran S, et al. Among authors: sansen s. Clin Genet. 2020 Apr;97(4):655-660. doi: 10.1111/cge.13694. Epub 2020 Jan 7. Clin Genet. 2020. PMID: 31860127
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.
Saier C, Sansen S, Berghout J, Freyler K, Einhorn M, Einhorn Y, Matalonga L, Beltran S, Novelli A, Selvatici R, Fortunato F, Montanari S, Martinez-Fresno M, Gumus G, Agolini E, Garnier N, Ferlini A, Bertini E, Kirschner J. Saier C, et al. Among authors: sansen s. Orphanet J Rare Dis. 2025 May 15;20(1):231. doi: 10.1186/s13023-025-03692-6. Orphanet J Rare Dis. 2025. PMID: 40375093 Free PMC article.
24 results