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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: hellebrekers dmei. 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.
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM. Hellebrekers DMEI, et al. Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26. Eur J Hum Genet. 2017. PMID: 28443623 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: hellebrekers dmei. 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.
DTYMK is essential for genome integrity and neuronal survival.
Vanoevelen JM, Bierau J, Grashorn JC, Lambrichs E, Kamsteeg EJ, Bok LA, Wevers RA, van der Knaap MS, Bugiani M, Frisk JH, Colnaghi R, O'Driscoll M, Hellebrekers DMEI, Rodenburg R, Ferreira CR, Brunner HG, van den Wijngaard A, Abdel-Salam GMH, Wang L, Stumpel CTRM. Vanoevelen JM, et al. Among authors: hellebrekers dmei. Acta Neuropathol. 2022 Feb;143(2):245-262. doi: 10.1007/s00401-021-02394-0. Epub 2021 Dec 17. Acta Neuropathol. 2022. PMID: 34918187 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: hellebrekers dmei. 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
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM; European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart. Bos TA, et al. Among authors: hellebrekers dmei. Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28. Neth Heart J. 2023. PMID: 37505369 Free PMC article.
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
de Vries RJ, Jaeger B, Hellebrekers DMEI, Reneman L, Verhamme C, Smeets HJM, van Maarle MC, de Visser M, Bleeker FE. de Vries RJ, et al. Among authors: hellebrekers dmei. Clin Neurol Neurosurg. 2021 Jul;206:106637. doi: 10.1016/j.clineuro.2021.106637. Epub 2021 Apr 20. Clin Neurol Neurosurg. 2021. PMID: 34022688 Free article.
42 results