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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM. van de Putte R, et al. PLoS One. 2019 May 28;14(5):e0217477. doi: 10.1371/journal.pone.0217477. eCollection 2019. PLoS One. 2019. PMID: 31136621 Free PMC article. Clinical Trial.
Uncontrolled maternal chronic respiratory diseases in pregnancy: A new potential risk factor suggested to be associated with anorectal malformations in offspring.
van de Putte R, de Blaauw I, Boenink R, Reijers MHE, Broens PMA, Sloots CEJ, van Heijst AFJ, van Gelder MMHJ, Roeleveld N, van Rooij IALM. van de Putte R, et al. Birth Defects Res. 2019 Jan 15;111(2):62-69. doi: 10.1002/bdr2.1429. Epub 2018 Dec 19. Birth Defects Res. 2019. PMID: 30569656 Free PMC article.
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. van de Putte R, et al. Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020. Front Pediatr. 2020. PMID: 32656166 Free PMC article.
Maternal risk associated with the VACTERL association: A case-control study.
van de Putte R, de Walle HEK, van Hooijdonk KJM, de Blaauw I, Marcelis CLM, van Heijst A, Giltay JC, Renkema KY, Broens PMA, Brosens E, Sloots CEJ, Bergman JEH, Roeleveld N, van Rooij IALM. van de Putte R, et al. Birth Defects Res. 2020 Nov;112(18):1495-1504. doi: 10.1002/bdr2.1773. Epub 2020 Jul 22. Birth Defects Res. 2020. PMID: 33179873 Free PMC article.
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG. Stevens SJC, et al. Among authors: van de putte r. Clin Genet. 2022 Feb;101(2):183-189. doi: 10.1111/cge.14076. Epub 2021 Oct 28. Clin Genet. 2022. PMID: 34671974 Free PMC article.
Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Bergman JEH, Roeleveld N. van de Putte R, et al. Birth Defects Res. 2020 May 15;112(9):688-698. doi: 10.1002/bdr2.1686. Epub 2020 Apr 22. Birth Defects Res. 2020. PMID: 32319733 Free PMC article.
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, Bergman JEH. van de Putte R, et al. Pediatr Res. 2020 Feb;87(3):541-549. doi: 10.1038/s41390-019-0561-y. Epub 2019 Sep 9. Pediatr Res. 2020. PMID: 31499513