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

Year Number of Results
1993 1
2003 1
2004 1
2005 2
2006 2
2007 5
2008 2
2009 2
2011 1
2012 6
2013 3
2014 2
2015 2
2016 3
2017 1
2018 1
2019 4
2020 2
2021 2
2022 1
2023 2
2024 2

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38 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: barbaro m. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Acute Intermittent Porphyria.
Sardh E, Barbaro M. Sardh E, et al. Among authors: barbaro m. 2005 Sep 27 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Sep 27 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301372 Free Books & Documents. Review.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: barbaro m. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: barbaro m. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. PMID: 36798224 Free PMC article. Updated. Preprint.
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: barbaro m. Int J Neonatal Screen. 2021 Aug 25;7(3):59. doi: 10.3390/ijns7030059. Int J Neonatal Screen. 2021. PMID: 34449549 Free PMC article.
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C, Laine I, Dallabona C, Clemente P, Calvo-Garrido J, Wibom R, Naess K, Barbaro M, Falk A, Donnini C, Freyer C, Wredenberg A, Wedell A. Maffezzini C, et al. Among authors: barbaro m. Mol Genet Genomic Med. 2019 Jun;7(6):e654. doi: 10.1002/mgg3.654. Epub 2019 Mar 28. Mol Genet Genomic Med. 2019. PMID: 30920170 Free PMC article.
AGC1 deficiency associated with global cerebral hypomyelination.
Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. Wibom R, et al. Among authors: barbaro m. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. N Engl J Med. 2009. PMID: 19641205 Free article.
38 results