Author

Colleen P. Davis

University of Washington

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 6 Approach:statistical model· 5 Research Focus:variant effect prediction· 4 Assay:whole-exome sequencing· 3 Assay:whole-genome sequencing· 3 Research Focus:database / resource· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2

Frequent Co-Authors

Eric BoerwinkleiD· 5 shared Peter Anderson· 5 shared Themistocles L. AssimesiD· 4 shared Allison E. Ashley‐KochiD· 3 shared Álvaro AlonsoiD· 3 shared Brian E. CadeiD· 3 shared Brian S. CusteriD· 3 shared Cara L. CartyiD· 3 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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5 shared papersGenetic & Genomic Medicine

Eric BoerwinkleORCID

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Author profile →

7 papers

Recent·Most cited

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

Woei‐Yuh Saw, Kangjin Kim, Yichen Huang, Jeong Hyun Yun, Xiaolong Ma, Jason Bacon, Yash Pershad, Daniel A Levy, George T. O’Connor, Eric Boerwinkle, R. Graham Barr, Stephen S. Rich, Jerome I. Rotter, April P. Carson, Laura M. Raffield, , Michael Rutledge DeBaun

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

American Journal of Respiratory and Critical Care Medicine · Mar 19, 2026Peer-reviewedGenetic & Genomic Medicine

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac R. L. Xu, Marie‐Josée Dicaire, Guinevere Spurdens, Gabriel E. Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana P. Rebelo, Virginie Roth, Marion Wandzel, , Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

Nature Genetics · Jun 27, 2024Peer-reviewedGenetics

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Jessica X. Chong, Seth Berger, Samantha M. Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame, Megan H. Hawley, E. Andres Rivera-Munoz, Stephanie P. DiTroia, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, , Tanner D. Jensen

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

Genetics in Medicine · Jun 26, 2024Peer-reviewedGenetics

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan, Marie Wessels, Richard Joseph Burman, Miriam C. Aziz, Jeffrey Dennis Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Tamara J. Bacus, , Gemma L. Carvill

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

Genetics in Medicine · Dec 8, 2022Peer-reviewedGenetic & Genomic Medicine

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter, Jennifer Ellen Posey, Nicole J. Lake, Nara Lygia de Macena Sobreira, Jessica X. Chong, Steven G. Buyske, Elizabeth Blue, Lisa Helbling Chadwick, Zeynep Coban‐Akdemir, Kimberly Floy Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, , Kurt N. Hetrick

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

Genetics in Medicine · Feb 8, 2022Peer-reviewedGenetic & Genomic Medicine

Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

Brian E. Cade, Jiwon Lee, Tamar Sofer, Heming Wang, Man Zhang, Han Chen, Sina A. Gharib, Daniel J. Gottlieb, Xiuqing Guo, Jacqueline M. Lane, Jingjing Liang, Xihong Lin, Hao Mei, Sanjay R. Patel, Shaun Purcell, , Scott E. Devine

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

Genome Medicine · Aug 26, 2021Peer-reviewedGenetics

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

Ali Reza Keramati, Ming‐Huei Chen, Benjamin A.T. Rodriguez, Lisa R. Yanek, Arunoday Bhan, Brady J. Gaynor, Kathleen A. Ryan, Jennifer A. Brody, Xue Yun Zhong, Qiang Wei, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura A. Almasy, , Paul S. de Vries

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.

Nature Communications · Jun 15, 2021Peer-reviewedGenomics