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

Year Number of Results
2002 2
2003 1
2004 7
2005 2
2006 2
2007 2
2008 1
2009 3
2010 1
2012 3
2013 5
2014 3
2015 5
2016 7
2017 9
2018 11
2019 3
2020 6
2021 10
2022 9
2023 11
2024 5

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92 results

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Page 1
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: boeckx n. 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.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: boeckx n. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
Homozygous DBF4 mutation as a cause of severe congenital neutropenia.
Willemsen M, Barber JS, Nieuwenhove EV, Staels F, Gerbaux M, Neumann J, Prezzemolo T, Pasciuto E, Lagou V, Boeckx N, Filtjens J, De Visscher A, Matthys P, Schrijvers R, Tousseyn T, O'Driscoll M, Bucciol G, Schlenner S, Meyts I, Humblet-Baron S, Liston A. Willemsen M, et al. Among authors: boeckx n. J Allergy Clin Immunol. 2023 Jul;152(1):266-277. doi: 10.1016/j.jaci.2023.02.016. Epub 2023 Feb 24. J Allergy Clin Immunol. 2023. PMID: 36841265 Free article.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Rodrigues Bento J, Krebsová A, Van Gucht I, Valdivia Callejon I, Van Berendoncks A, Votypka P, Luyckx I, Peldova P, Laga S, Havelka M, Van Laer L, Trunecka P, Boeckx N, Verstraeten A, Macek M, Meester JAN, Loeys B. Rodrigues Bento J, et al. Among authors: boeckx n. Hum Mutat. 2022 Dec;43(12):1824-1828. doi: 10.1002/humu.24433. Epub 2022 Jul 16. Hum Mutat. 2022. PMID: 35819173 Free PMC article.
92 results