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

Year Number of Results
2002 5
2003 4
2004 9
2005 13
2006 12
2007 13
2008 3
2009 6
2010 15
2011 8
2012 11
2013 14
2014 14
2015 16
2016 18
2017 13
2018 15
2019 16
2020 10
2021 10
2022 5
2023 9
2024 0

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209 results

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Page 1
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: koeleman bpc. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Gene Therapies for Monogenic Autism Spectrum Disorders.
Weuring W, Geerligs J, Koeleman BPC. Weuring W, et al. Among authors: koeleman bpc. Genes (Basel). 2021 Oct 22;12(11):1667. doi: 10.3390/genes12111667. Genes (Basel). 2021. PMID: 34828273 Free PMC article. Review.
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, Beretta L, Simeón CP, Carreira P, Ortego-Centeno N, Castellvi I, Bossini-Castillo L, Carmona FD, Orozco G, Hunzelmann N, Distler JHW, Franke A, Lunardi C, Moroncini G, Gabrielli A, de Vries-Bouwstra J, Wijmenga C, Koeleman BPC, Nordin A, Padyukov L, Hoffmann-Vold AM, Lie B; European Scleroderma Group†; Proudman S, Stevens W, Nikpour M; Australian Scleroderma Interest Group (ASIG); Vyse T, Herrick AL, Worthington J, Denton CP, Allanore Y, Brown MA, Radstake TRDJ, Fonseca C, Chang HY, Mayes MD, Martin J. López-Isac E, et al. Among authors: koeleman bpc. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y. Nat Commun. 2019. PMID: 31672989 Free PMC article.
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N, Weuring WJ, De Vriendt E, Smal N, van de Vondervoort J, van 't Slot R, Koetsier M, Zonnekein N, De Pooter T, Weckhuysen S, Koeleman BPC. Dirkx N, et al. Among authors: koeleman bpc. BMC Biol. 2023 Jul 13;21(1):156. doi: 10.1186/s12915-023-01646-7. BMC Biol. 2023. PMID: 37443005 Free PMC article.
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.
Kerick M, Acosta-Herrera M, Simeón-Aznar CP, Callejas JL, Assassi S; International SSc Group; Proudman SM, Nikpour M; Australian Scleroderma Interest Group (ASIG); PRECISESADS Clinical Consortium; Hunzelmann N, Moroncini G, de Vries-Bouwstra JK, Orozco G, Barton A, Herrick AL, Terao C, Allanore Y, Fonseca C, Alarcón-Riquelme ME, Radstake TRDJ, Beretta L, Denton CP, Mayes MD, Martin J. Kerick M, et al. NPJ Genom Med. 2022 Oct 5;7(1):57. doi: 10.1038/s41525-022-00327-8. NPJ Genom Med. 2022. PMID: 36198672 Free PMC article.
Modifier genes in SCN1A-related epilepsy syndromes.
de Lange IM, Mulder F, van 't Slot R, Sonsma ACM, van Kempen MJA, Nijman IJ, Ernst RF, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: koeleman bpc. Mol Genet Genomic Med. 2020 Apr;8(4):e1103. doi: 10.1002/mgg3.1103. Epub 2020 Feb 7. Mol Genet Genomic Med. 2020. PMID: 32032478 Free PMC article.
The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM. Delgado-Escueta AV, et al. Epilepsy Behav. 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. Epilepsy Behav. 2013. PMID: 23756480 Review.
Endocrine autoimmune disease: genetics become complex.
Wiebolt J, Koeleman BP, van Haeften TW. Wiebolt J, et al. Eur J Clin Invest. 2010 Dec;40(12):1144-55. doi: 10.1111/j.1365-2362.2010.02366.x. Epub 2010 Aug 16. Eur J Clin Invest. 2010. PMID: 20718847 Review.
209 results