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Page 1
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Niskanen JE, Ohlsson Å, Ljungvall I, Drögemüller M, Ernst RF, Dooijes D, van Deutekom HWM, van Tintelen JP, Snijders Blok CJB, van Vugt M, van Setten J, Asselbergs FW, Petrič AD, Salonen M, Hundi S, Hörtenhuber M; DoGA consortium; Kere J, Pyle WG, Donner J, Postma AV, Leeb T, Andersson G, Hytönen MK, Häggström J, Wiberg M, Friederich J, Eberhard J, Harakalova M, van Steenbeek FG, Wess G, Lohi H. Niskanen JE, et al. Among authors: ernst rf. Genome Med. 2023 Sep 18;15(1):73. doi: 10.1186/s13073-023-01221-3. Genome Med. 2023. PMID: 37723491 Free PMC article.
Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.
van der Voorn SM, van Drie E, Proost V, Dimitrova K, Netherlands Acm/Pln Registry, Ernst RF, James CA, Tichnell C, Murray B, Calkins H, Saguner AM, Duru F, Ellinor PT, Bezzina CR, Jurgens SJ, van Tintelen JP, van Veen TAB. van der Voorn SM, et al. Among authors: ernst rf. Int J Mol Sci. 2023 Nov 3;24(21):15931. doi: 10.3390/ijms242115931. Int J Mol Sci. 2023. PMID: 37958923 Free PMC article.
Recombinant Interleukin-1 Receptor Antagonist Is an Effective First-Line Treatment Strategy in New-Onset Systemic Juvenile Idiopathic Arthritis, Irrespective of HLA-DRB1 Background and IL1RN Variants.
Erkens RGA, Calis JJA, Verwoerd A, De Roock S, Ter Haar NM, Den Engelsman G, Van der Veken LT, Ernst RF, Van Deutekom HWM, Pickering A, Scholman RC, Jansen MHA, Swart JF, Sinha R, Roth J, Schulert GS, Grom AA, Van Loosdregt J, Vastert SJ. Erkens RGA, et al. Among authors: ernst rf. Arthritis Rheumatol. 2024 Jan;76(1):119-129. doi: 10.1002/art.42656. Epub 2023 Nov 6. Arthritis Rheumatol. 2024. PMID: 37471469
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: ernst rf. 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.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM, Koudijs MJ, van 't Slot R, Sonsma ACM, Mulder F, Carbo EC, van Kempen MJA, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: ernst rf. J Med Genet. 2019 Feb;56(2):75-80. doi: 10.1136/jmedgenet-2018-105672. Epub 2018 Oct 27. J Med Genet. 2019. PMID: 30368457
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Snoek R, et al. Among authors: ernst rf. Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363. Nephrol Dial Transplant. 2022. PMID: 33306124
A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity.
Sachs N, de Ligt J, Kopper O, Gogola E, Bounova G, Weeber F, Balgobind AV, Wind K, Gracanin A, Begthel H, Korving J, van Boxtel R, Duarte AA, Lelieveld D, van Hoeck A, Ernst RF, Blokzijl F, Nijman IJ, Hoogstraat M, van de Ven M, Egan DA, Zinzalla V, Moll J, Boj SF, Voest EE, Wessels L, van Diest PJ, Rottenberg S, Vries RGJ, Cuppen E, Clevers H. Sachs N, et al. Among authors: ernst rf. Cell. 2018 Jan 11;172(1-2):373-386.e10. doi: 10.1016/j.cell.2017.11.010. Epub 2017 Dec 7. Cell. 2018. PMID: 29224780 Free article.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: ernst rf. Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20. Epilepsia. 2018. PMID: 29460957
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K, Huibers MMH, Hollink IHIM, van der Veken LT, Ernst RF, Simons A, Zonneveld-Huijssoon E, van der Hout AH, Abbott KM, Hoischen A, Pieterse M, Kuijpers TW, van Montfrans JM, van Gijn ME. Elsink K, et al. Among authors: ernst rf. Eur J Hum Genet. 2021 Jan;29(1):20-28. doi: 10.1038/s41431-020-0702-0. Epub 2020 Jul 30. Eur J Hum Genet. 2021. PMID: 32733070 Free PMC article.
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