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Page 1
Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Narcis A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T A/Prof, Krapels I, Hoeks MPA, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos A, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez LA, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K MBBS FRACP FRCPA, Babic M, McGovern A, Rawlings L, Valkulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans MC, Kuiper RP, Poplawski N, Barbaro PM, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: krapels i. Blood Adv. 2024 Apr 25:bloodadvances.2023012331. doi: 10.1182/bloodadvances.2023012331. Online ahead of print. Blood Adv. 2024. PMID: 38662475 No abstract available.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: krapels ipc. Genet Med. 2024 Feb;26(2):101024. doi: 10.1016/j.gim.2023.101024. Epub 2023 Dec 11. Genet Med. 2024. PMID: 38085215 Free article. No abstract available.
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Verheul LM, van der Ree MH, Groeneveld SA, Mulder BA, Christiaans I, Kapel GFL, Alings M, Bootsma M, Barge-Schaapveld DQCM, Balt JC, Yap SC, Krapels IPC, Ter Bekke RMA, Volders PGA, van der Crabben SN, Postema PG, Wilde AAM, Dooijes D, Baas AF, Hassink RJ. Verheul LM, et al. Among authors: krapels ipc. Europace. 2023 Nov 2;25(11):euad336. doi: 10.1093/europace/euad336. Europace. 2023. PMID: 37967257 Free PMC article.
The Maastricht Acquisition Platform for Studying Mechanisms of Cell-Matrix Crosstalk (MAPEX): An Interdisciplinary and Systems Approach towards Understanding Thoracic Aortic Disease.
Ganizada BH, Reesink KD, Parikh S, Ramaekers MJFG, Akbulut AC, Saraber PJMH, Debeij GP, Mumc-Taa Student Team, Jaminon AM, Natour E, Lorusso R, Wildberger JE, Mees B, Schurink GW, Jacobs MJ, Cleutjens J, Krapels I, Gombert A, Maessen JG, Accord R, Delhaas T, Schalla S, Schurgers LJ, Bidar E. Ganizada BH, et al. Among authors: krapels i. Biomedicines. 2023 Jul 25;11(8):2095. doi: 10.3390/biomedicines11082095. Biomedicines. 2023. PMID: 37626592 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: krapels i. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
Left Atrial Function in Patients with Titin Cardiomyopathy.
Henkens MTHM, Raafs AG, Vanloon T, Vos JL, Vandenwijngaard A, Brunner HG, Krapels IPC, Knackstedt C, Gerretsen S, Hazebroek MR, Vernooy K, Nijveldt R, Lumens J, Verdonschot JAJ. Henkens MTHM, et al. Among authors: krapels ipc. J Card Fail. 2024 Jan;30(1):51-60. doi: 10.1016/j.cardfail.2023.05.013. Epub 2023 May 23. J Card Fail. 2024. PMID: 37230314 Free article.
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.
Stroeks SLVM, Hellebrekers D, Claes GRF, Krapels IPC, Henkens MHTM, Sikking M, Vanhoutte EK, Helderman-van den Enden A, Brunner HG, van den Wijngaard A, Verdonschot JAJ. Stroeks SLVM, et al. Among authors: krapels ipc. Eur J Hum Genet. 2023 Jul;31(7):776-783. doi: 10.1038/s41431-023-01384-y. Epub 2023 May 17. Eur J Hum Genet. 2023. PMID: 37198425
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy Patients.
Verdonschot JAJ, Wang P, Derks KWJ, Adriaens ME, Stroeks SLVM, Henkens MTHM, Raafs AG, Sikking M, de Koning B, van den Wijngaard A, Krapels IPC, Nabben M, Brunner HG, Heymans SRB. Verdonschot JAJ, et al. Among authors: krapels ipc. JACC Basic Transl Sci. 2023 Feb 1;8(4):406-418. doi: 10.1016/j.jacbts.2022.10.010. eCollection 2023 Apr. JACC Basic Transl Sci. 2023. PMID: 37138803 Free PMC article.
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Stroeks SLVM, Lunde IG, Hellebrekers DMEI, Claes GRF, Wakimoto H, Gorham J, Krapels IPC, Vanhoutte EK, van den Wijngaard A, Henkens MTHM, Raafs AG, Sikking MA, Broers JLV, Nabben M, Jones EAV, Heymans SRB, Brunner HG, Verdonschot JAJ. Stroeks SLVM, et al. Among authors: krapels ipc. Circ Genom Precis Med. 2023 Apr;16(2):e003788. doi: 10.1161/CIRCGEN.122.003788. Epub 2023 Mar 27. Circ Genom Precis Med. 2023. PMID: 36971006
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I. Faas BHW, et al. Among authors: krapels i. Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5. Prenat Diagn. 2023. PMID: 36647814
60 results