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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.
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.
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
Oliver KL, Ellis CA, Scheffer IE, Ganesan S, Leu C, Sadleir LG, Heinzen EL, Mefford HC, Bass AJ, Curtis SW, Harris RV; Epi4K Consortium; Whiteman DC, Helbig I, Ottman R, Epstein MP, Bahlo M, Berkovic SF. Oliver KL, et al. Among authors: curtis sw. EBioMedicine. 2022 Jul;81:104079. doi: 10.1016/j.ebiom.2022.104079. Epub 2022 May 27. EBioMedicine. 2022. PMID: 35636315 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.
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 LJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ. Robinson K, et al. Among authors: curtis sw. medRxiv [Preprint]. 2023 Apr 6:2023.03.01.23286642. doi: 10.1101/2023.03.01.23286642. medRxiv. 2023. Update in: HGG Adv. 2023 Aug 25;4(4):100234. doi: 10.1016/j.xhgg.2023.100234. PMID: 37066311 Free PMC article. Updated. Preprint.
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. Among authors: curtis sw. 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.
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. Among authors: curtis sw. 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.
The heterogeneous genetic architectures of orofacial clefts.
Robinson K, Curtis SW, Leslie EJ. Robinson K, et al. Among authors: curtis sw. Trends Genet. 2024 May;40(5):410-421. doi: 10.1016/j.tig.2024.02.004. Epub 2024 Mar 13. Trends Genet. 2024. PMID: 38480105 Review.
43 results