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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ. Bishop MR, et al. Am J Hum Genet. 2020 Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. Am J Hum Genet. 2020. PMID: 32574564 Free PMC article.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Diaz Perez KK, Curtis SW, Sanchis-Juan A, Zhao X, Head T, Ho S, Carter B, McHenry T, Bishop MR, Valencia-Ramirez LC, Restrepo C, Hecht JT, Uribe LM, Wehby G, Weinberg SM, Beaty TH, Murray JC, Feingold E, Marazita ML, Cutler DJ, Epstein MP, Brand H, Leslie EJ. Diaz Perez KK, et al. Genet Med. 2023 Oct;25(10):100918. doi: 10.1016/j.gim.2023.100918. Epub 2023 Jun 15. Genet Med. 2023. PMID: 37330696 Free PMC article.
FAT4 identified as a potential modifier of orofacial cleft laterality.
Curtis SW, Chang D, Sun MR, Epstein MP, Murray JC, Feingold E, Beaty TH, Weinberg SM, Marazita ML, Lipinski RJ, Carlson JC, Leslie EJ. Curtis SW, et al. Genet Epidemiol. 2021 Oct;45(7):721-735. doi: 10.1002/gepi.22420. Epub 2021 Jun 15. Genet Epidemiol. 2021. PMID: 34130359 Free PMC article.
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Perez KKD, Chung S, Head ST, Epstein MP, Hecht JT, Wehby GL, Weinberg SM, Murray JC, Marazita ML, Leslie EJ. Perez KKD, et al. medRxiv [Preprint]. 2023 Feb 7:2023.02.01.23285340. doi: 10.1101/2023.02.01.23285340. medRxiv. 2023. Update in: Am J Med Genet A. 2023 Oct;191(10):2558-2570. doi: 10.1002/ajmg.a.63336 PMID: 36798250 Free PMC article. Updated. Preprint.
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML. Mukhopadhyay N, et al. Hum Genet. 2020 Feb;139(2):215-226. doi: 10.1007/s00439-019-02099-1. Epub 2019 Dec 17. Hum Genet. 2020. PMID: 31848685 Free PMC article.