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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. Levy MA, et al. Among authors: van jaarsveld rh, van haelst m. NPJ Genom Med. 2021 Nov 8;6(1):92. doi: 10.1038/s41525-021-00256-y. NPJ Genom Med. 2021. PMID: 34750377 Free PMC article.
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Kleinendorst L, Abawi O, Vos N, van der Valk ES, Maas SM, Morgan AT, Hildebrand MS, Da Silva JD, Florijn RJ, Lauffer P, Visser JA, van Rossum EFC, van den Akker ELT, van Haelst MM. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van den akker elt, van der valk es. Clin Obes. 2024 Aug;14(4):e12661. doi: 10.1111/cob.12661. Epub 2024 Apr 10. Clin Obes. 2024. PMID: 38596856
Further confirmation of the MED13L haploinsufficiency syndrome.
van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G. van Haelst MM, et al. Among authors: van haaften g, van binsbergen e. Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781760 Free PMC article.
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst L, Abawi O, van der Kamp HJ, Alders M, Meijers-Heijboer HEJ, van Rossum EFC, van den Akker ELT, van Haelst MM. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van den akker elt, van der kamp hj. Eur J Endocrinol. 2020 Jan;182(1):47-56. doi: 10.1530/EJE-19-0678. Eur J Endocrinol. 2020. PMID: 31658438 Review.
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Barrie ES, et al. Among authors: van haelst mm. Am J Med Genet A. 2020 May;182(5):1201-1208. doi: 10.1002/ajmg.a.61512. Epub 2020 Feb 25. Am J Med Genet A. 2020. PMID: 32100459
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.
Kleinendorst L, Alsters SIM, Abawi O, Waisfisz Q, Boon EMJ, van den Akker ELT, van Haelst MM. Kleinendorst L, et al. Among authors: van haelst mm, van den akker elt. Eur J Hum Genet. 2020 Jul;28(7):943-946. doi: 10.1038/s41431-020-0594-z. Epub 2020 Mar 6. Eur J Hum Genet. 2020. PMID: 32144365 Free PMC article.
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L, Abawi O, van der Voorn B, Jongejan MHTM, Brandsma AE, Visser JA, van Rossum EFC, van der Zwaag B, Alders M, Boon EMJ, van Haelst MM, van den Akker ELT. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van der zwaag b, van den akker elt, van der voorn b. PLoS One. 2020 May 8;15(5):e0232990. doi: 10.1371/journal.pone.0232990. eCollection 2020. PLoS One. 2020. PMID: 32384097 Free PMC article.
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: van haelst mm. 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: van haelst mm. 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.
166 results