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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, Sondheimer N, Takahashi N, Miles JH, Anagnostou E, Tammimies K, Zarrei M, Merico D, Stavropoulos DJ, Yuen RKC, Fernandez BA, Scherer SW. Chan AJS, et al. Among authors: negrijn c. Nat Commun. 2022 Oct 29;13(1):6463. doi: 10.1038/s41467-022-34112-z. Nat Commun. 2022. PMID: 36309498 Free PMC article.
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
Abdelfatah N, McComiskey DA, Doucette L, Griffin A, Moore SJ, Negrijn C, Hodgkinson KA, King JJ, Larijani M, Houston J, Stanton SG, Young TL. Abdelfatah N, et al. Among authors: negrijn c. Eur J Hum Genet. 2013 Oct;21(10):1112-9. doi: 10.1038/ejhg.2013.5. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443030 Free PMC article.