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Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees.
Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, van Roosmalen MJ, Tavakoli-Yaraki M, de Weerdt O, Nieuwenhuis HK, van Gijn M, Kloosterman WP. Buijs A, et al. Among authors: van der crabben s, van der zwaag b, van binsbergen e, van roosmalen mj, van gijn m. Leukemia. 2012 Sep;26(9):2151-4. doi: 10.1038/leu.2012.79. Epub 2012 Mar 20. Leukemia. 2012. PMID: 22430633 No abstract available.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: van der crabben s, van gijn m. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS, Bootsma M, Ng CA, Wilde AAM, Bertels RA, Bikker H, Christiaans I, van der Crabben SN, Hol JA, Koopmann TT, Knijnenburg J, Lommerse AAJ, van der Smagt JJ, Bezzina CR, Vandenberg JI, Verkerk AO, Barge-Schaapveld DQCM, Lodder EM. Copier JS, et al. Among authors: van der crabben sn, van der smagt jj. Hum Mol Genet. 2023 Mar 20;32(7):1072-1082. doi: 10.1093/hmg/ddac261. Hum Mol Genet. 2023. PMID: 36269083 Free PMC article.
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.
Jansen M, Christiaans I, van der Crabben SN, Michels M, Huurman R, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: van der crabben sn, van der velden j, van tintelen jp. Neth Heart J. 2021 Jun;29(6):318-329. doi: 10.1007/s12471-021-01539-w. Epub 2021 Feb 2. Neth Heart J. 2021. PMID: 33532905 Free PMC article.
The Sports Cardiology Team: Personalizing Athlete Care Through a Comprehensive, Multidisciplinary Approach.
van Hattum JC, Verwijs SM, Senden PJ, Spies JL, Boekholdt SM, Groenink M, Panhuyzen-Goedkoop NM, Willems AR, Knobbe I, Blom NA, Wijne CACM, Reurink G, van der Crabben SN, Bijsterveld NR, Verhagen EALM, Pinto YM, Wilde AAM, Jørstad HT. van Hattum JC, et al. Among authors: van der crabben sn. Mayo Clin Proc Innov Qual Outcomes. 2022 Oct 12;6(6):525-535. doi: 10.1016/j.mayocpiqo.2022.08.006. eCollection 2022 Dec. Mayo Clin Proc Innov Qual Outcomes. 2022. PMID: 36267910 Free PMC article.
Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle.
Van Diepen MA, Speleman M, Robbers LFHJ, Groenink M, van Randen A, Langeveld M, Van der Crabben SN, Bijsterveld NR, Jørstad HT. Van Diepen MA, et al. Among authors: van der crabben sn. JACC Case Rep. 2024 Nov 20;29(22):102735. doi: 10.1016/j.jaccas.2024.102735. eCollection 2024 Nov 20. JACC Case Rep. 2024. PMID: 39691882 Free PMC article.
64 results