Author

Claudia Restrepo

ORCID 0000-0002-0695-7562Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Eleanor FeingoldiD· 2 shared Elizabeth J. LeslieiD· 2 shared George L. WehbyiD· 2 shared Jacqueline T. HechtiD· 2 shared Jeffrey Clark MurrayiD· 2 shared Luz Consuelo Valencia‐Ramirez· 2 shared Madison R. BishopiD· 2 shared Mary L. MarazitaiD· 2 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Eleanor FeingoldORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

Kimberly K. Diaz Perez, Sarah W. Curtis, Alba Sanchis‐Juan, Xuefang Zhao, S. Taylor Head, Samantha Ho, Bridget Carter, Toby Goldstein McHenry, Madison R. Bishop, Luz Consuelo Valencia‐Ramirez, Claudia Restrepo, Jacqueline T. Hecht, Lina M. Moreno Uribe, George L. Wehby, Seth Michael Weinberg, , Elizabeth J. Leslie

The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.

Genetics in Medicine · Jun 15, 2023Peer-reviewedGenetic & Genomic Medicine

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

Nandita Mukhopadhyay, Madison R. Bishop, Michael Mortillo, Pankaj Chopra, Jacqueline B. Hetmanski, Margaret A. Taub, Lina M. Moreno, Luz Consuelo Valencia‐Ramirez, Claudia Restrepo, George L. Wehby, Jacqueline T. Hecht, Frederic W.‐B. Deleyiannis, Azeez Butali, Seth Michael Weinberg, Terri H. Beaty, , Mary L. Marazita

This study uses whole genome sequencing of OFC trios to identify a new locus on chromosome 21 associated with OFCs in Colombian families.

Human Genetics · Dec 17, 2019Peer-reviewedGenetics