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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI. Terhal PA, et al. Among authors: vlaar jm. Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14. Eur J Hum Genet. 2020. PMID: 31089205 Free PMC article.
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, Janssen R, de la Fonteijne L, van Binsbergen E, van Roosmalen MJ, Hochstenbach R, Giachino D, Talkowski ME, Kloosterman WP, Cuppen E. Middelkamp S, et al. Among authors: vlaar jm. Genome Med. 2019 Dec 4;11(1):79. doi: 10.1186/s13073-019-0692-0. Genome Med. 2019. PMID: 31801603 Free PMC article.