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Page 1
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.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
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.
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.
van Pottelberghe S, Kupper N, Scheirlynck E, Amin AS, Wilde AAM, Hofman N, Callus E, Biller R, Nekkebroeck J, Van Dooren S, Hes FJ, van der Crabben SN. van Pottelberghe S, et al. Among authors: van der crabben sn, van dooren s. Eur J Hum Genet. 2024 Jun;32(6):607-618. doi: 10.1038/s41431-023-01510-w. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097768 Free PMC article. Review.
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Ferreira EA, Buijs MJN, Wijngaard R, Daams JG, Datema MR, Engelen M, van Karnebeek CDM, Oud MM, Vaz FM, Wamelink MMC, van der Crabben SN, Langeveld M. Ferreira EA, et al. Front Neurol. 2023 Jul 25;14:1206106. doi: 10.3389/fneur.2023.1206106. eCollection 2023. Front Neurol. 2023. PMID: 37560457 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.
Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R; FinnGen; VA Million Veteran Program; HERMES Consortium; Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Jurgens SJ, et al. Among authors: van der crabben s. Nat Genet. 2024 Dec;56(12):2843. doi: 10.1038/s41588-024-02047-4. Nat Genet. 2024. PMID: 39633063 Free PMC article. No abstract available.
64 results