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Page 1
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: verberne ea. Genet Med. 2024 Mar;26(3):101050. doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18. Genet Med. 2024. PMID: 38126281 Free article.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
van der Laan L, Rooney K, Haghshenas S, Silva A, McConkey H, Relator R, Levy MA, Valenzuela I, Trujillano L, Lasa-Aranzasti A, Campos B, Castells N, Verberne EA, Maas S, Alders M, Mannens MMAM, van Haelst MM, Sadikovic B, Henneman P. van der Laan L, et al. Among authors: verberne ea. Int J Mol Sci. 2023 Sep 18;24(18):14240. doi: 10.3390/ijms241814240. Int J Mol Sci. 2023. PMID: 37762546 Free PMC article.
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.
Verberne EA, Lo-A-Njoe SM, van Ginkel M, Zwolsman J, Nikkels S, Clement L, de Vroomen M, Wever MLG, Arends E, Holtsema H, Hajenius PJ, Moreta D, Ecury-Goossen GM, Mannens MMAM, de Walle HEK, Bergman JEH, van Haelst MM. Verberne EA, et al. Birth Defects Res. 2023 Apr 1;115(6):595-604. doi: 10.1002/bdr2.2153. Epub 2023 Feb 9. Birth Defects Res. 2023. PMID: 36757056
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM. Verberne EA, et al. Int J Mol Sci. 2022 Jul 20;23(14):8001. doi: 10.3390/ijms23148001. Int J Mol Sci. 2022. PMID: 35887345 Free PMC article.
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA, Westermann JM, de Vries TI, Ecury-Goossen GM, Lo-A-Njoe SM, Manshande ME, Faries S, Veenhuis HD, Philippi P, Falix FA, Rosina-Angelista I, Ponson-Wever M, Rafael-Croes L, Thorsen P, Arends E, de Vroomen M, Nagelkerke SQ, Tilanus M, van der Veken LT, Huijsdens-van Amsterdam K, van der Kevie-Kersemaekers AM, Alders M, Mannens MMAM, van Haelst MM. Verberne EA, et al. Am J Med Genet A. 2022 Jun;188(6):1777-1791. doi: 10.1002/ajmg.a.62708. Epub 2022 Mar 7. Am J Med Genet A. 2022. PMID: 35253369 Free PMC article.
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Dingemans AJM, et al. Among authors: verberne ea. Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15. Eur J Hum Genet. 2022. PMID: 34521999 Free PMC article.
Clinical and community genetics services in the Dutch Caribbean.
Verberne EA, Ecury-Goossen GM, Manshande ME, Ponson-Wever M, de Vroomen M, Tilanus M, Mannens MMAM, Henneman L, van Haelst MM. Verberne EA, et al. J Community Genet. 2021 Jul;12(3):497-501. doi: 10.1007/s12687-021-00515-6. Epub 2021 Mar 10. J Community Genet. 2021. PMID: 33751485 Free PMC article.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
14 results