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Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med. 2023 Oct;25(10):100918. doi: 10.1016/j.gim.2023.100918. Epub 2023 Jun 15.
Genet Med. 2023.
PMID: 37330696
Free article.
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. Among authors: diaz perez kk.
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.
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Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Diaz Perez KK, Chung S, Head ST, Epstein MP, Hecht JT, Wehby GL, Weinberg SM, Murray JC, Marazita ML, Leslie EJ.
Diaz Perez KK, et al.
Am J Med Genet A. 2023 Oct;191(10):2558-2570. doi: 10.1002/ajmg.a.63336. Epub 2023 Jun 23.
Am J Med Genet A. 2023.
PMID: 37350193
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