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DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
Peeters S, Declerck K, Thomas M, Boudin E, Beckers D, Chivu O, Heinrichs C, Devriendt K, de Zegher F, Van Hul W, Vanden Berghe W, De Schepper J, Rooman R, Mortier G; WES-BESPEED Study Group. Peeters S, et al. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa465. doi: 10.1210/clinem/dgaa465. J Clin Endocrinol Metab. 2020. PMID: 32685970
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: peeters s. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: peeters s. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. Meester JAN, et al. Among authors: peeters s. Genet Med. 2022 May;24(5):1045-1053. doi: 10.1016/j.gim.2021.12.015. Epub 2022 Jan 17. Genet Med. 2022. PMID: 35058154 Free PMC article.
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
Rodrigues Bento J, Meester J, Luyckx I, Peeters S, Verstraeten A, Loeys B. Rodrigues Bento J, et al. Among authors: peeters s. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:223-253. doi: 10.1146/annurev-genom-111521-104455. Annu Rev Genomics Hum Genet. 2022. PMID: 36044906 Free article. Review.
363 results