Author

Madison R. Bishop

Emory UniversityORCID 0000-0001-6766-0140Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant calling· 3 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Eleanor FeingoldiD· 3 shared Elizabeth J. LeslieiD· 3 shared George L. WehbyiD· 3 shared Jacqueline T. HechtiD· 3 shared Jeffrey Clark MurrayiD· 3 shared Luz Consuelo Valencia‐Ramirez· 3 shared Mary L. MarazitaiD· 3 shared Seth Michael WeinbergiD· 3 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Eleanor FeingoldORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJun 15, 2023

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…·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.

21 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintApr 1, 2020

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

Madison R. Bishop, Kimberly K. Diaz Perez, Miranda R. Sun…·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.

DOI 10.1101/2020.04.01.019927

humanwhole-genome sequencing

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GeneticsHuman GeneticsPeer-reviewedDec 17, 2019

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…·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.

47 citations

humanwhole-genome sequencing

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