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

Year Number of Results
1993 1
2003 4
2005 2
2007 3
2008 2
2009 2
2011 1
2012 2
2013 3
2014 5
2015 2
2016 4
2017 4
2018 4
2019 6
2020 3
2021 6
2022 10
2023 8
2024 3

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66 results

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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: cario h. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
LNK mutations and myeloproliferative disorders.
McMullin MF, Cario H. McMullin MF, et al. Among authors: cario h. Am J Hematol. 2016 Feb;91(2):248-51. doi: 10.1002/ajh.24259. Am J Hematol. 2016. PMID: 26660394 Free article. Review.
Primary Familial and Congenital Polycythemia.
Bento C, McMullin MF, Percy M, Cario H. Bento C, et al. Among authors: cario h. 2016 Nov 10. 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. 2016 Nov 10. 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: 27831681 Free Books & Documents. Review.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: cario h. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
Next-generation reference intervals for pediatric hematology.
Zierk J, Hirschmann J, Toddenroth D, Arzideh F, Haeckel R, Bertram A, Cario H, Frühwald MC, Groß HJ, Groening A, Grützner S, Gscheidmeier T, Hoff T, Hoffmann R, Klauke R, Krebs A, Lichtinghagen R, Mühlenbrock-Lenter S, Neumann M, Nöllke P, Niemeyer CM, Razum O, Ruf HG, Steigerwald U, Streichert T, Torge A, Rascher W, Prokosch HU, Rauh M, Metzler M. Zierk J, et al. Among authors: cario h. Clin Chem Lab Med. 2019 Sep 25;57(10):1595-1607. doi: 10.1515/cclm-2018-1236. Clin Chem Lab Med. 2019. PMID: 31005947
66 results