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Page 1
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: hol ja. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Bakhuizen JJ, Hopman SMJ, Bosscha MI, Dommering CJ, van den Heuvel-Eibrink MM, Hol JA, Kester LA, Koudijs MJ, Langenberg KPS, Loeffen JLC, van der Lugt J, Moll AC, van Noesel MM, Smetsers SE, de Vos-Kerkhof E, Merks JHM, Kuiper RP, Jongmans MCJ. Bakhuizen JJ, et al. Among authors: hol ja. JAMA Netw Open. 2023 Feb 1;6(2):e2254157. doi: 10.1001/jamanetworkopen.2022.54157. JAMA Netw Open. 2023. PMID: 36735256 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: hol ja. Hum Mol Genet. 2023 Mar 20;32(7):1072-1082. doi: 10.1093/hmg/ddac261. Hum Mol Genet. 2023. PMID: 36269083 Free PMC article.
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ. Hol JA, et al. J Clin Oncol. 2022 Jun 10;40(17):1892-1902. doi: 10.1200/JCO.21.02510. Epub 2022 Mar 1. J Clin Oncol. 2022. PMID: 35230882 Free PMC article.
Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year's experience of national centralization.
Roy P, van Peer SE, de Witte MM, Tytgat GAM, Karim-Kos HE, van Grotel M, van de Ven CP, Mavinkurve-Groothuis AMC, Merks JHM, Kuiper RP, Hol JA, Janssens GOR, de Krijger RR, Jongmans MCJ, Drost J, van der Steeg AFW, Littooij AS, Wijnen MHWA, van Tinteren H, van den Heuvel-Eibrink MM. Roy P, et al. Among authors: hol ja. PLoS One. 2022 Jan 13;17(1):e0261729. doi: 10.1371/journal.pone.0261729. eCollection 2022. PLoS One. 2022. PMID: 35025887 Free PMC article.
Bilateral Renal Tumors in Children: The First 5 Years' Experience of National Centralization in The Netherlands and a Narrative Review of the Literature.
van Peer SE, Hol JA, van der Steeg AFW, Grotel MV, Tytgat GAM, Mavinkurve-Groothuis AMC, Janssens GOR, Littooij AS, de Krijger RR, Jongmans MCJ, Lilien MR, Drost J, Kuiper RP, van Tinteren H, Wijnen MHWA, van den Heuvel-Eibrink MM. van Peer SE, et al. Among authors: hol ja. J Clin Med. 2021 Nov 26;10(23):5558. doi: 10.3390/jcm10235558. J Clin Med. 2021. PMID: 34884260 Free PMC article.
Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group.
Hol JA, Jewell R, Chowdhury T, Duncan C, Nakata K, Oue T, Gauthier-Villars M, Littooij AS, Kaneko Y, Graf N, Bourdeaut F, van den Heuvel-Eibrink MM, Pritchard-Jones K, Maher ER, Kratz CP, Jongmans MCJ. Hol JA, et al. Eur J Cancer. 2021 Aug;153:51-63. doi: 10.1016/j.ejca.2021.05.014. Epub 2021 Jun 13. Eur J Cancer. 2021. PMID: 34134020 Free article. Review.
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
Postema FAM, Hopman SMJ, de Borgie CAJM, Aalfs CM, Anninga JK, Berger LPV, Bleeker FE, Dommering CJ, van Eijkelenburg NKA, Hammond P, van den Heuvel-Eibrink MM, Hol JA, Kors WA, Letteboer TGW, Loeffen JLCM, Meijer L, Olderode-Berends MJW, Wagner A, Hennekam RC, Merks JHM. Postema FAM, et al. Among authors: hol ja. Fam Cancer. 2021 Oct;20(4):263-271. doi: 10.1007/s10689-021-00237-1. Epub 2021 Mar 9. Fam Cancer. 2021. PMID: 33686467 Free PMC article.
21 results