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A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A. Potuijt JWP, et al. Among authors: venter dj. Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543231 Free article.
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.
Armes JE, Williams M, Price G, Wallis T, Gallagher R, Matsika A, Joy C, Galea M, Gardener G, Leach R, Swagemakers SM, Tearle R, Stubbs A, Harraway J, van der Spek PJ, Venter DJ. Armes JE, et al. Among authors: venter dj. Pediatr Dev Pathol. 2018 Jan-Feb;21(1):54-67. doi: 10.1177/1093526617715528. Epub 2017 Jun 22. Pediatr Dev Pathol. 2018. PMID: 28641477
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Vossen ARJV, van Straalen KR, Swagemakers SMA, de Klein JEMM, Stubbs AP, Venter DJ, van der Zee HH, van der Spek PJ, Prens EP. Vossen ARJV, et al. Among authors: venter dj. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2353-2361. doi: 10.1111/jdv.16310. Epub 2020 Mar 12. J Eur Acad Dermatol Venereol. 2020. PMID: 32078194 Free PMC article.
Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.
Zevenbergen C, Groeneweg S, Swagemakers SMA, de Jong A, Medici-Van den Herik E, Rispens M, Klootwijk W, Medici M, de Rijke YB, Meima ME, Larsen PR, Chavatte L, Venter D, Peeters RP, Van der Spek PJ, Visser WE. Zevenbergen C, et al. J Clin Endocrinol Metab. 2019 May 1;104(5):1369-1377. doi: 10.1210/jc.2018-01605. J Clin Endocrinol Metab. 2019. PMID: 30423129
MALDI-TOF MS meets WGS in a VRE outbreak investigation.
Schlebusch S, Price GR, Gallagher RL, Horton-Szar V, Elbourne LD, Griffin P, Venter DJ, Jensen SO, Van Hal SJ. Schlebusch S, et al. Among authors: venter dj. Eur J Clin Microbiol Infect Dis. 2017 Mar;36(3):495-499. doi: 10.1007/s10096-016-2824-4. Epub 2016 Nov 26. Eur J Clin Microbiol Infect Dis. 2017. PMID: 27889877
121 results