Author

Claudia P. Restrepo Muñeton

ORCID 0000-0002-5079-0085Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jeffrey Clark MurrayiD· 2 shared Lina M. Moreno UribeiD· 2 shared Mary L. MarazitaiD· 2 shared Seth Michael WeinbergiD· 2 shared Aline Lourenço PetriniD· 1 shared Azeez ButaliiD· 1 shared Carmen J. BuxóiD· 1 shared Carmencita D. PadillaiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jeffrey Clark MurrayORCID

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2 papers

Recent·Most cited

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

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

Madison R. Bishop, Kimberly K. Diaz Perez, Miranda R. Sun, Samantha Ho, Pankaj Chopra, Nandita Mukhopadhyay, Jacqueline B. Hetmanski, Margaret A. Taub, Lina M. Moreno‐Uribe, Luz Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, George L. Wehby, Jacqueline T. Hecht, Frederic W.‐D. Deleyiannis, Seth Michael Weinberg, , Elizabeth J. Leslie

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.

bioRxiv · Apr 1, 2020 · PreprintGenetics