This study identifies de novo structural variants in individuals with orofacial clefts and finds they contribute to genetic risk, with some variants disrupting known risk genes and suggesting new candidate genes.

medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine

Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip

Noah Herrick, Zeynep Erdogan-Yildirim, Myoung Keun Lee, Sarah W. Curtis, Seth R Berke, Grace C. Brewer, Toby H McHenry, Ahmed M. El Sergani, Joel Anderton, Nandita Mukhopadhyay, Jenna C. Carlson, TH Beaty, Azeez Butali, Carmen J. Buxó, Jacqueline T. Hecht, , Mary L. Marazita

The paper performs trio-based GWAS on cleft lip subtypes to identify novel genetic loci associated with specific phenotypes.

Human Genetics and Genomics Advances · Sep 11, 2026Peer-reviewedGenetic & Genomic Medicine

Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease

Nehir Edibe Kurtas, Alba Sanchis‐Juan, Eren Shin, Sarah W. Curtis, Kelsey R. Robinson, Arthur S. Lee, Azeez Arisekola Alade, Xuefang Zhao, Jack M. Fu, Kimberly K. Diaz Perez, Lord Jephthah Joojo Gowans, Mekonen A. Eshete, WasiuL Adeyemo, Carmen J. Buxó, Carmencita D. Padilla, , Harrison Brand

This study identifies novel genetic drivers of orofacial clefts by analyzing de novo variants in 2,497 trios and integrating findings across subtypes and syndromic status.

medRxiv · May 24, 2026 · PreprintGenetic & Genomic Medicine

Laterality, Symmetry and Completeness Patterns of Nonsyndromic Orofacial Clefts in a Multiethnic Cohort

Christina Spencer, Ligiane Alves Machado‐Paula, Fang Qian, Azeez Butali, Carmen J. Buxó, Carmencita D. Padilla, Claudia P. Restrepo Muñeton, Consuelo Valencia-Ramírez, Ross E. Long, Seth Michael Weinberg, Mary L. Marazita, Jeffrey C. Murray, Lina M. Moreno Uribe, Aline Lourenço Petrin

The paper analyzes the laterality, symmetry, and completeness of nonsyndromic orofacial clefts in a multiethnic cohort, finding sex, race, and ethnicity influence these traits but not completeness.

medRxiv · Apr 22, 2026 · PreprintGenetic & Genomic Medicine

Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos

Zeynep Erdogan-Yildirim, Jenna C. Carlson, Nandita Mukhopadhyay, Elizabeth J. Leslie, Carmencita David Padilla, Jeffrey Clark Murray, Terri H. Beaty, Seth Michael Weinberg, Mary L. Marazita, John R. Shaffer

The paper investigates gene-environment interactions involving maternal exposures and orofacial cleft risk in Filipinos, identifying suggestive interactions with smoking and vitamin use.

Genes · Jul 25, 2025Peer-reviewedGenetic & Genomic Medicine

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk

Jenna C. Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, Lord Jephthah Joojo Gowans, Jacqueline T. Hecht, Ross E. Long, Lina Johanna Moreno, Jeffrey Clark Murray, Ieda Maria Orioli, Carmencita David Padilla, George L. Wehby, Eleanor Feingold, , John R. Shaffer

This study identifies three new genetic loci associated with orofacial cleft risk and confirms known risk genes, providing insights into the molecular mechanisms of facial development.

medRxiv · Jan 21, 2025 · PreprintGenetic & Genomic Medicine

A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals

Jenna C. Carlson, Deepti Anand, Azeez Butali, Carmen J. Buxó, Kaare Christensen, Frederic W.‐B. Deleyiannis, Jacqueline T. Hecht, Lina M. Moreno, Ieda Maria Orioli, Carmencita David Padilla, John R. Shaffer, Alexandre Rezende Vieira, George L. Wehby, Seth Michael Weinberg, Jeffrey Clark Murray, , Elizabeth J. Leslie

The paper develops a framework to analyze subtype-specific and shared genetic effects in orofacial clefting and applies it to identify loci associated with different subtypes.

Genetic Epidemiology · Jun 6, 2019Peer-reviewedGenetics

Genome Wide Interaction Studies Identify Sex-Specific Risk Alleles for Nonsyndromic Orofacial Clefts

Jenna C. Carlson, Nichole Nidey, Azeez Butali, Carmen J. Buxó, Kaare Christensen, Frederic W.‐D. Deleyiannis, Jacqueline T. Hecht, L. Leigh Field, Lina M. Moreno‐Uribe, Ieda Maria Orioli, Fernando Adrian Poletta, Carmencita David Padilla, Alexandre Rezende Vieira, Seth Michael Weinberg, George L. Wehby, , Elizabeth J. Leslie

The paper identifies sex-specific risk alleles for nonsyndromic orofacial clefts through genome-wide interaction studies, finding a significant gene-by-sex effect at the 10q21 locus.

Genetic Epidemiology · Sep 11, 2018Peer-reviewedGenetics