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Page 1
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.
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. Kousa YA, et al. Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. Hum Mol Genet. 2019. PMID: 30689861 Free PMC article.
GWAS reveals loci associated with velopharyngeal dysfunction.
Chernus J, Roosenboom J, Ford M, Lee MK, Emanuele B, Anderton J, Hecht JT, Padilla C, Deleyiannis FWB, Buxo CJ, Feingold E, Leslie EJ, Shaffer JR, Weinberg SM, Marazita ML. Chernus J, et al. Sci Rep. 2018 May 31;8(1):8470. doi: 10.1038/s41598-018-26880-w. Sci Rep. 2018. PMID: 29855589 Free PMC article.
Rare and Common Variants Conferring Risk of Tooth Agenesis.
Jonsson L, Magnusson TE, Thordarson A, Jonsson T, Geller F, Feenstra B, Melbye M, Nohr EA, Vucic S, Dhamo B, Rivadeneira F, Ongkosuwito EM, Wolvius EB, Leslie EJ, Marazita ML, Howe BJ, Moreno Uribe LM, Alonso I, Santos M, Pinho T, Jonsson R, Audolfsson G, Gudmundsson L, Nawaz MS, Olafsson S, Gustafsson O, Ingason A, Unnsteinsdottir U, Bjornsdottir G, Walters GB, Zervas M, Oddsson A, Gudbjartsson DF, Steinberg S, Stefansson H, Stefansson K. Jonsson L, et al. J Dent Res. 2018 May;97(5):515-522. doi: 10.1177/0022034517750109. Epub 2018 Jan 24. J Dent Res. 2018. PMID: 29364747 Free PMC article.
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