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Page 1
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC. Verdonschot JAJ, et al. Among authors: brunner hg. Circ Genom Precis Med. 2024 Apr;17(2):e004416. doi: 10.1161/CIRCGEN.123.004416. Epub 2024 Mar 22. Circ Genom Precis Med. 2024. PMID: 38516780 Free PMC article.
Implications of Genetic Testing in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG. Verdonschot JAJ, et al. Among authors: brunner hg. Circ Genom Precis Med. 2020 Oct;13(5):476-487. doi: 10.1161/CIRCGEN.120.003031. Epub 2020 Sep 3. Circ Genom Precis Med. 2020. PMID: 32880476
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH, Stegmann APA, de Koning B, Velter C, Steyls A, van Esch M, Lakeman P, Yntema H, Esteki MZ, de Die-Smulders CEM, Gilissen C, van den Wijngaard A, Brunner HG, Paulussen ADC. Sallevelt SCEH, et al. Among authors: brunner hg. Genet Med. 2021 Jun;23(6):1125-1136. doi: 10.1038/s41436-021-01116-x. Epub 2021 Mar 19. Genet Med. 2021. PMID: 33742171 Free PMC article.
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Stroeks SLVM, Hellebrekers DMEI, Claes GRF, Tayal U, Krapels IPC, Vanhoutte EK, van den Wijngaard A, Henkens MTHM, Ware JS, Heymans SRB, Brunner HG, Verdonschot JAJ. Stroeks SLVM, et al. Among authors: brunner hg. Genet Med. 2021 Nov;23(11):2186-2193. doi: 10.1038/s41436-021-01255-1. Epub 2021 Jun 30. Genet Med. 2021. PMID: 34194005 Free PMC article.
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
van Dijk W, Derks K, Drüsedau M, Meekels J, Koeck R, Essers R, Dreesen J, Coonen E, de Die-Smulders C, Stevens SJC, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. van Dijk W, et al. Among authors: brunner hg. Hum Reprod. 2022 Oct 31;37(11):2700-2708. doi: 10.1093/humrep/deac208. Hum Reprod. 2022. PMID: 36149256 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: brunner hg. 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
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.
Verdonschot JAJ, Hazebroek MR, Derks KWJ, Barandiarán Aizpurua A, Merken JJ, Wang P, Bierau J, van den Wijngaard A, Schalla SM, Abdul Hamid MA, van Bilsen M, van Empel VPM, Knackstedt C, Brunner-La Rocca HP, Brunner HG, Krapels IPC, Heymans SRB. Verdonschot JAJ, et al. Among authors: brunner la rocca hp, brunner hg. Eur Heart J. 2018 Mar 7;39(10):864-873. doi: 10.1093/eurheartj/ehx808. Eur Heart J. 2018. PMID: 29377983
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Wang P, Sanders-van Wijk S, Merken JJ, Adriaansen YA, van den Wijngaard A, Krapels IPC, Brunner-La Rocca HP, Brunner HG, Heymans SRB. Verdonschot JAJ, et al. Among authors: brunner la rocca hp, brunner hg. Circ Heart Fail. 2018 Nov;11(11):e005220. doi: 10.1161/CIRCHEARTFAILURE.118.005220. Circ Heart Fail. 2018. PMID: 30571196
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
Verdonschot JAJ, Robinson EL, James KN, Mohamed MW, Claes GRF, Casas K, Vanhoutte EK, Hazebroek MR, Kringlen G, Pasierb MM, van den Wijngaard A, Glatz JFC, Heymans SRB, Krapels IPC, Nahas S, Brunner HG, Szklarczyk R. Verdonschot JAJ, et al. Among authors: brunner hg. Mol Genet Genomic Med. 2020 Feb;8(2):e1049. doi: 10.1002/mgg3.1049. Epub 2019 Dec 27. Mol Genet Genomic Med. 2020. PMID: 31880413 Free PMC article.
493 results