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Medrxiv : the Preprint Server for Health Sciences|April 17, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2023
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial cleftingKimberly K Diaz Perez, Sarah W Curtis, Alba Sanchis-Juan, et al.Plos Genetics|August 26, 2016
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial MorphologyJohn R Shaffer, Ekaterina Orlova, Myoung Keun Lee, et al.Genetic Epidemiology|November 11, 2017
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypesJenna C Carlson, Jennifer Standley, Aline Petrin, et al.Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lipNoah Herrick, Zeynep Erdogan-Yildirim, Myoung Keun Lee, et al.Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
Rare variants in <i>PRKCI</i> cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.Medrxiv : the Preprint Server for Health Sciences|December 23, 2024
Multi-ancestry Genome Wide Association Study Meta-analysis of Non-syndromic Orofacial CleftsZhonglin Jia, Nandita Mukhopadhyay, Zhenglin Yang, et al.Human Molecular Genetics|January 29, 2019
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulationYoussef A Kousa, Huiping Zhu, Walid D Fakhouri, et al.Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanationNandita Mukhopadhyay, Eleanor E Feingold, Harrison Brand, et al.American Journal of Human Genetics|June 24, 2020
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft TriosMadison R Bishop, Kimberly K Diaz Perez, Miranda Sun, et al.Pageof 10