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Page 1
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. Among authors: mannens mmam. 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.
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Alders M, et al. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Nat Genet. 2009. PMID: 19935664
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Vos N, Oussaada SM, Cooiman MI, Kleinendorst L, Ter Horst KW, Hazebroek EJ, Romijn JA, Serlie MJ, Mannens MMAM, van Haelst MM. Vos N, et al. Among authors: mannens mmam. Curr Diab Rep. 2020 Jul 30;20(9):44. doi: 10.1007/s11892-020-01327-7. Curr Diab Rep. 2020. PMID: 32729070 Free PMC article. Review.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M. Sadikovic B, et al. Among authors: mannens mmam. Genet Med. 2021 Jun;23(6):1065-1074. doi: 10.1038/s41436-020-01096-4. Epub 2021 Feb 5. Genet Med. 2021. PMID: 33547396 Free PMC article.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M. Sadikovic B, et al. Among authors: mannens mmam. Genet Med. 2021 Nov;23(11):2228. doi: 10.1038/s41436-021-01130-z. Genet Med. 2021. PMID: 33637969 Free PMC article. No abstract available.
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. Among authors: mannens mmam. 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.
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. Among authors: mannens mmam. 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.
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. Among authors: mannens mmam. Int J Mol Sci. 2022 Jul 20;23(14):8001. doi: 10.3390/ijms23148001. Int J Mol Sci. 2022. PMID: 35887345 Free PMC article.
104 results