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

Year Number of Results
2002 3
2003 3
2004 1
2005 1
2006 1
2007 5
2008 6
2010 5
2011 4
2012 12
2013 10
2014 6
2015 9
2016 17
2017 16
2018 12
2019 15
2020 12
2021 12
2022 8
2023 10
2024 5

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146 results

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Page 1
Thrombophilia Testing: from Genetic Predisposition to Discrimination.
Verstraete A, Freson K, Verhamme P, Vanassche T. Verstraete A, et al. Among authors: freson k. TH Open. 2024 Apr 8;8(2):e177-e180. doi: 10.1055/a-2284-4285. eCollection 2024 Apr. TH Open. 2024. PMID: 38596262 Free PMC article. No abstract available.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: freson k. Genet Med. 2024 Feb 5;26(5):101097. doi: 10.1016/j.gim.2024.101097. Online ahead of print. Genet Med. 2024. PMID: 38334070 Free article.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinøe E, Böckelmann D, Freson K, Thiele T, Makhloufi H, Rath M, Eberl W, Wolff M, Freyer C, Wesche J, Zieger B, Felbor U, Heidel FH, Greinacher A. Zaninetti C, et al. Among authors: freson k. J Thromb Haemost. 2024 Apr;22(4):1179-1186. doi: 10.1016/j.jtha.2023.12.007. Epub 2023 Dec 15. J Thromb Haemost. 2024. PMID: 38103735
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.
Ross JE, Mohan S, Zhang J, Sullivan MJ, Bury L, Lee K, Futchi I, Frantz A, McDougal D, Perez Botero J, Cattaneo M, Cooper N, Downes K, Gresele P, Keenan C, Lee AI, Megy K, Morange PE, Morgan NV, Schulze H, Zimowski K, Freson K, Lambert MP. Ross JE, et al. Among authors: freson k. J Thromb Haemost. 2024 Mar;22(3):645-665. doi: 10.1016/j.jtha.2023.11.011. Epub 2023 Nov 26. J Thromb Haemost. 2024. PMID: 38016518
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: freson k. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Among authors: freson k. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.
Blood Coagulation and Beyond: Position Paper from the Fourth Maastricht Consensus Conference on Thrombosis.
Akbulut AC, Arisz RA, Baaten CCFMJ, Baidildinova G, Barakzie A, Bauersachs R, Ten Berg J, van den Broek WWA, de Boer HC, Bonifay A, Bröker V, Buka RJ, Ten Cate H, Ten Cate-Hoek AJ, Cointe S, De Luca C, De Simone I, Diaz RV, Dignat-George F, Freson K, Gazzaniga G, van Gorp ECM, Habibi A, Henskens YMC, Iding AFJ, Khan A, Koenderink GH, Konkoth A, Lacroix R, Lahiri T, Lam W, Lamerton RE, Lorusso R, Luo Q, Maas C, McCarty OJT, van der Meijden PEJ, Meijers JCM, Mohapatra AK, Nevo N, Robles AP, Poncelet P, Reinhardt C, Ruf W, Saraswat R, Schönichen C, Schutgens R, Simioni P, Spada S, Spronk HMH, Tazhibayeva K, Thachil J, Diaz RV, Vallier L, Veninga A, Verhamme P, Visser C, Watson SP, Wenzel P, Willems RAL, Willers A, Zhang P, Zifkos K, van Zonneveld AJ. Akbulut AC, et al. Among authors: freson k. Thromb Haemost. 2023 Aug;123(8):808-839. doi: 10.1055/a-2052-9175. Epub 2023 Mar 13. Thromb Haemost. 2023. PMID: 36913975 Free PMC article.
Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
Ver Donck F, Ramaekers K, Thys C, Van Laer C, Peerlinck K, Van Geet C, Eto K, Labarque V, Freson K. Ver Donck F, et al. Among authors: freson k. Blood. 2023 May 4;141(18):2261-2274. doi: 10.1182/blood.2022017712. Blood. 2023. PMID: 36790527 Free PMC article.
146 results