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21 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: rasi c. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Age-related somatic structural changes in the nuclear genome of human blood cells.
Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A, Pedersen NL, Absher D, Dumanski JP. Forsberg LA, et al. Among authors: rasi c. Am J Hum Genet. 2012 Feb 10;90(2):217-28. doi: 10.1016/j.ajhg.2011.12.009. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305530 Free PMC article.
Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.
Forsberg LA, Rasi C, Pekar G, Davies H, Piotrowski A, Absher D, Razzaghian HR, Ambicka A, Halaszka K, Przewoźnik M, Kruczak A, Mandava G, Pasupulati S, Hacker J, Prakash KR, Dasari RC, Lau J, Penagos-Tafurt N, Olofsson HM, Hallberg G, Skotnicki P, Mituś J, Skokowski J, Jankowski M, Śrutek E, Zegarski W, Tiensuu Janson E, Ryś J, Tot T, Dumanski JP. Forsberg LA, et al. Among authors: rasi c. Genome Res. 2015 Oct;25(10):1521-35. doi: 10.1101/gr.187823.114. Genome Res. 2015. PMID: 26430163 Free PMC article.
PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.
Chase A, Pellagatti A, Singh S, Score J, Tapper WJ, Lin F, Hoade Y, Bryant C, Trim N, Yip BH, Zoi K, Rasi C, Forsberg LA, Dumanski JP, Boultwood J, Cross NCP. Chase A, et al. Among authors: rasi c. Leukemia. 2019 May;33(5):1184-1194. doi: 10.1038/s41375-018-0340-5. Epub 2018 Dec 20. Leukemia. 2019. PMID: 30573780 Free PMC article.
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.
Chase A, Leung W, Tapper W, Jones AV, Knoops L, Rasi C, Forsberg LA, Guglielmelli P, Zoi K, Hall V, Chiecchio L, Eder-Azanza L, Bryant C, Lannfelt L, Docherty L, White HE, Score J, Mackay DJ, Vannucchi AM, Dumanski JP, Cross NC. Chase A, et al. Among authors: rasi c. Leukemia. 2015 Oct;29(10):2069-74. doi: 10.1038/leu.2015.130. Epub 2015 May 20. Leukemia. 2015. PMID: 26114957 Free PMC article.
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.
Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, Sandgren J, Diaz de Ståhl T, Zaghlool A, Giedraitis V, Lannfelt L, Score J, Cross NC, Absher D, Janson ET, Lindgren CM, Morris AP, Ingelsson E, Lind L, Dumanski JP. Forsberg LA, et al. Among authors: rasi c. Nat Genet. 2014 Jun;46(6):624-8. doi: 10.1038/ng.2966. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777449 Free PMC article.
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.
Dumanski JP, Lambert JC, Rasi C, Giedraitis V, Davies H, Grenier-Boley B, Lindgren CM, Campion D, Dufouil C; European Alzheimer’s Disease Initiative Investigators; Pasquier F, Amouyel P, Lannfelt L, Ingelsson M, Kilander L, Lind L, Forsberg LA. Dumanski JP, et al. Among authors: rasi c. Am J Hum Genet. 2016 Jun 2;98(6):1208-1219. doi: 10.1016/j.ajhg.2016.05.014. Epub 2016 May 23. Am J Hum Genet. 2016. PMID: 27231129 Free PMC article. Clinical Trial.
21 results