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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.
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ. Robinson K, et al. HGG Adv. 2023 Aug 25;4(4):100234. doi: 10.1016/j.xhgg.2023.100234. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37719664 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 genetic variants in SEC24D modify orofacial cleft phenotypes.
Curtis SW, Carlson JC, Beaty TH, Murray JC, Weinberg SM, Marazita ML, Cotney JL, Cutler DJ, Epstein MP, Leslie EJ. Curtis SW, et al. medRxiv [Preprint]. 2023 Mar 27:2023.03.24.23287714. doi: 10.1101/2023.03.24.23287714. medRxiv. 2023. PMID: 37034635 Free PMC article. Preprint.
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.
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.
Curtis SW, Chang D, Lee MK, Shaffer JR, Indencleef K, Epstein MP, Cutler DJ, Murray JC, Feingold E, Beaty TH, Claes P, Weinberg SM, Marazita ML, Carlson JC, Leslie EJ. Curtis SW, et al. HGG Adv. 2021 Apr 8;2(2):100025. doi: 10.1016/j.xhgg.2021.100025. HGG Adv. 2021. PMID: 33817668 Free PMC article.
Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.
Mukhopadhyay N, Feingold E, Moreno-Uribe L, Wehby G, Valencia-Ramirez LC, Restrepo Muñeton CP, Padilla C, Deleyiannis F, Christensen K, Poletta FA, Orioli IM, Hecht JT, Buxó CJ, Butali A, Adeyemo WL, Vieira AR, Shaffer JR, Murray JC, Weinberg SM, Leslie EJ, Marazita ML. Mukhopadhyay N, et al. Genet Epidemiol. 2022 Apr;46(3-4):182-198. doi: 10.1002/gepi.22447. Epub 2022 Feb 22. Genet Epidemiol. 2022. PMID: 35191549 Free PMC article.