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Year Number of Results
2018 2
2019 2
2020 2
2021 2
2022 2
2023 2
2024 0

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Page 1
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: van waning ji. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D. van Waning JI, et al. J Am Coll Cardiol. 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. J Am Coll Cardiol. 2018. PMID: 29447731 Free article.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: van waning ji. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 Free PMC article. Review.
State-of-the art review: Noncompaction cardiomyopathy in pediatric patients.
Rohde S, Muslem R, Kaya E, Dalinghaus M, van Waning JI, Majoor-Krakauer D, Towbin J, Caliskan K. Rohde S, et al. Among authors: van waning ji. Heart Fail Rev. 2022 Jan;27(1):15-28. doi: 10.1007/s10741-021-10089-7. Epub 2021 Mar 14. Heart Fail Rev. 2022. PMID: 33715140 Free PMC article. Review.
Reply: Different Outcomes and Additional Gene Testing.
van Waning JI, Majoor-Krakauer D. van Waning JI, et al. J Am Coll Cardiol. 2018 Jun 19;71(24):2865-2866. doi: 10.1016/j.jacc.2018.04.010. J Am Coll Cardiol. 2018. PMID: 29903362 Free article. No abstract available.
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M, Hoedemaekers YM, Wessels MW, IJpma AS, Hofstra RMW, van Slegtenhorst MA, Majoor-Krakauer D. van Waning JI, et al. J Am Coll Cardiol. 2019 Apr 9;73(13):1601-1611. doi: 10.1016/j.jacc.2018.12.085. J Am Coll Cardiol. 2019. PMID: 30947911 Free article.