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Page 1
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Haghshenas S, Karimi K, Stevenson RE, Levy MA, Relator R, Kerkhof J, Rzasa J, McConkey H, Lauzon-Young C, Balci TB, White-Brown AM, Carter MT, Richer J, Armour CM, Sawyer SL, Bhola PT, Tedder ML, Skinner CD, van Rooij IALM, van de Putte R, de Blaauw I, Koeck RM, Hoischen A, Brunner H, Esteki MZ, Pelet A, Lyonnet S, Amiel J, Boycott KM, Sadikovic B. Haghshenas S, et al. Among authors: esteki mz. Am J Hum Genet. 2024 Aug 8;111(8):1643-1655. doi: 10.1016/j.ajhg.2024.07.005. Epub 2024 Jul 31. Am J Hum Genet. 2024. PMID: 39089258
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: esteki mz. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH, Stegmann APA, de Koning B, Velter C, Steyls A, van Esch M, Lakeman P, Yntema H, Esteki MZ, de Die-Smulders CEM, Gilissen C, van den Wijngaard A, Brunner HG, Paulussen ADC. Sallevelt SCEH, et al. Among authors: esteki mz. Genet Med. 2021 Jun;23(6):1125-1136. doi: 10.1038/s41436-021-01116-x. Epub 2021 Mar 19. Genet Med. 2021. PMID: 33742171 Free PMC article.
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.
Che H, Villela D, Dimitriadou E, Melotte C, Brison N, Neofytou M, Van Den Bogaert K, Tsuiko O, Devriendt K, Legius E, Esteki MZ, Voet T, Vermeesch JR. Che H, et al. Among authors: esteki mz. Genet Med. 2020 May;22(5):962-973. doi: 10.1038/s41436-019-0748-y. Epub 2020 Feb 6. Genet Med. 2020. PMID: 32024963 Free article.
Mitochondrial Venus is more likely to have a lower birthweight.
Aleksejeva E, Esteki MZ, Salumets A. Aleksejeva E, et al. Among authors: esteki mz. Trends Endocrinol Metab. 2024 Jul;35(7):569-571. doi: 10.1016/j.tem.2024.04.011. Epub 2024 Apr 24. Trends Endocrinol Metab. 2024. PMID: 38664152 Free article.
An integrative analysis of endometrial steroid metabolism and transcriptome in relation to endometrial receptivity in in vitro fertilization patients.
Stevens Brentjens LBPM, Obukhova D, den Hartog JE, Delvoux B, Koskivuori J, Auriola S, Häkkinen MR, Bui BN, van Hoogenhuijze NE, Mackens S, Mol F, de Bruin JP, Besselink D, Teklenburg G, Kukushkina V, Salumets A, Broekmans FJM, van Golde RJT, Esteki MZ, Romano A. Stevens Brentjens LBPM, et al. Among authors: esteki mz. F S Sci. 2023 Aug;4(3):219-228. doi: 10.1016/j.xfss.2023.04.003. Epub 2023 May 2. F S Sci. 2023. PMID: 37142054 Free article. Clinical Trial.