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Plos Genetics|September 30, 2025
Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft riskJenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, et al.
Nature Genetics|February 21, 2018
Genome-wide mapping of global-to-local genetic effects on human facial shapePeter Claes, Jasmien Roosenboom, Julie D White, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 10, 2021
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical careRossana Sanchez Russo, Michael J Gambello, Melissa M Murphy, et al.
Human Molecular Genetics|October 31, 2025
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humansSarah W Curtis, Cinderella Yang, Alba Sanchis-Juan, et al.
American Journal of Human Genetics|October 7, 2025
Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 triosKelsey R Robinson, Sarah W Curtis, Justin E Paschall, et al.
Human Genetics|January 6, 2017
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palateElizabeth J Leslie, Jenna C Carlson, John R Shaffer, et al.
Frontiers in Cell and Developmental Biology|April 26, 2021
Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel RegionsNandita Mukhopadhyay, Eleanor Feingold, Lina Moreno-Uribe, et al.
Genetic Epidemiology|February 22, 2022
Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypesNandita Mukhopadhyay, Eleanor Feingold, Lina Moreno-Uribe, et al.
Genetic Epidemiology|June 8, 2019
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signalsJenna C Carlson, Deepti Anand, Azeez Butali, et al.
HGG Advances|September 18, 2023
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palateKelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, et al.
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