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

Year Number of Results
2003 1
2014 1
2015 1
2016 2
2017 3
2019 2
2020 5
2021 7
2022 6
2023 5
2024 0

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28 results

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Page 1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Among authors: zetterstrom rh. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Newborn Screening in a Pandemic-Lessons Learned.
Mlinaric M, Bonham JR, Kožich V, Kölker S, Majek O, Battelino T, Torkar AD, Koracin V, Perko D, Remec ZI, Lampret BR, Scarpa M, Schielen PCJI, Zetterström RH, Groselj U. Mlinaric M, et al. Among authors: zetterstrom rh. Int J Neonatal Screen. 2023 Apr 11;9(2):21. doi: 10.3390/ijns9020021. Int J Neonatal Screen. 2023. PMID: 37092515 Free PMC article. Review.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Sikonja J, et al. Among authors: zetterstrom rh. Int J Neonatal Screen. 2022 May 6;8(2):31. doi: 10.3390/ijns8020031. Int J Neonatal Screen. 2022. PMID: 35645285 Free PMC article. Review.
Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network. Koracin V, et al. BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780. BMJ Glob Health. 2022. PMID: 35236661 Free PMC article.
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, Knapkova M, Kocova M, Kotori V, Kozich V, Kremezna A, Kurkijärvi R, La Marca G, Mikelsaar R, Milenkovic T, Mitkin V, Moldovanu F, Ceglarek U, O'Grady L, Oltarzewski M, Pettersen RD, Ramadza D, Salimbayeva D, Samardzic M, Shamsiddinova M, Songailiené J, Szatmari I, Tabatadze N, Tezel B, Toromanovic A, Tovmasyan I, Usurelu N, Vevere P, Vilarinho L, Vogazianos M, Yahyaoui R, Zeyda M, Schielen PCJI. Loeber JG, et al. Among authors: zetterstrom rh. Int J Neonatal Screen. 2021 Mar 5;7(1):15. doi: 10.3390/ijns7010015. Int J Neonatal Screen. 2021. PMID: 33808002 Free PMC article.
First Year of TREC-Based National SCID Screening in Sweden.
Göngrich C, Ekwall O, Sundin M, Brodszki N, Fasth A, Marits P, Dysting S, Jonsson S, Barbaro M, Wedell A, von Döbeln U, Zetterström RH. Göngrich C, et al. Among authors: zetterstrom rh. Int J Neonatal Screen. 2021 Aug 25;7(3):59. doi: 10.3390/ijns7030059. Int J Neonatal Screen. 2021. PMID: 34449549 Free PMC article.
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
Framme JL, Lundqvist C, Lundell AC, van Schouwenburg PA, Lemarquis AL, Thörn K, Lindgren S, Gudmundsdottir J, Lundberg V, Degerman S, Zetterström RH, Borte S, Hammarström L, Telemo E, Hultdin M, van der Burg M, Fasth A, Oskarsdóttir S, Ekwall O. Framme JL, et al. Among authors: zetterstrom rh. J Clin Immunol. 2022 Apr;42(3):618-633. doi: 10.1007/s10875-021-01201-5. Epub 2022 Jan 26. J Clin Immunol. 2022. PMID: 35080750 Free PMC article.
28 results