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Page 1
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Höps W, Weiss MM, Derks R, Galbany JC, Ouden AD, van den Heuvel S, Timmermans R, Smits J, Mokveld T, Dolzhenko E, Chen X, van den Wijngaard A, Eberle MA, Yntema HG, Hoischen A, Gilissen C, Vissers LELM. Höps W, et al. Among authors: mokveld t. Am J Hum Genet. 2025 Jan 4:S0002-9297(24)00455-5. doi: 10.1016/j.ajhg.2024.12.013. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809270
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: mokveld t. Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313615
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.
Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Goldberg ME, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. Porubsky D, et al. Among authors: mokveld t. bioRxiv [Preprint]. 2024 Aug 5:2024.08.05.606142. doi: 10.1101/2024.08.05.606142. bioRxiv. 2024. PMID: 39149261 Free PMC article. Preprint.
TRGT-denovo: accurate detection of de novo tandem repeat mutations.
Mokveld T, Dolzhenko E, Dashnow H, Nicholas TJ, Sasani T, van der Sanden B, Jadhav B, Pedersen B, Kronenberg Z, Tucci A, Sharp AJ, Quinlan AR, Gilissen C, Hoischen A, Eberle MA. Mokveld T, et al. bioRxiv [Preprint]. 2024 Jul 19:2024.07.16.600745. doi: 10.1101/2024.07.16.600745. bioRxiv. 2024. PMID: 39071386 Free PMC article. Preprint.
Evaluating the effectiveness of pre-operative diagnosis of ovarian cancer using minimally invasive liquid biopsies by combining serum human epididymis protein 4 and cell-free DNA in patients with an ovarian mass.
Gaillard DHK, Lof P, Sistermans EA, Mokveld T, Horlings HM, Mom CH, Reinders MJT, Amant F, van den Broek D, Wessels LFA, Lok CAR; HE4 Study Group; Study group. Gaillard DHK, et al. Among authors: mokveld t. Int J Gynecol Cancer. 2024 May 6;34(5):713-721. doi: 10.1136/ijgc-2023-005073. Int J Gynecol Cancer. 2024. PMID: 38388177
Characterization and visualization of tandem repeats at genome scale.
Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell WJ, Karniski C, Kronenberg Z, Danzi MC, Cheung WA, Bi C, Farrow E, Wenger A, Chua KP, Martínez-Cerdeño V, Bartley TD, Jin P, Nelson DL, Zuchner S, Pastinen T, Quinlan AR, Sedlazeck FJ, Eberle MA. Dolzhenko E, et al. Among authors: mokveld t. Nat Biotechnol. 2024 Oct;42(10):1606-1614. doi: 10.1038/s41587-023-02057-3. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168995
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SL, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: mokveld t. medRxiv [Preprint]. 2023 Dec 12:2023.05.03.23289461. doi: 10.1101/2023.05.03.23289461. medRxiv. 2023. Update in: Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1 PMID: 37205357 Free PMC article. Updated. Preprint.
CHOP: haplotype-aware path indexing in population graphs.
Mokveld T, Linthorst J, Al-Ars Z, Holstege H, Reinders M. Mokveld T, et al. Genome Biol. 2020 Mar 11;21(1):65. doi: 10.1186/s13059-020-01963-y. Genome Biol. 2020. PMID: 32160922 Free PMC article.