Author

Ivan Chinn

Baylor College of Medicine

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· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:database / resource· 2 Approach:experimental assay· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:clustering· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Alan H. BeggsiD· 3 shared Ashok BalasubramanyamiD· 3 shared Brendan LeeiD· 3 shared Carlos A. BacinoiD· 3 shared Devon E. BonneriD· 3 shared Edward Behrens· 3 shared Gerard T. BerryiD· 3 shared Hsiao-Tuan ChaoiD· 3 shared

Activity by Year

2024-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Domain specific phenotypic expansion associated with variants in MACF1

Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld, Paulina Bahena Carbajal, Diana Carrasco, Jonathan A. Bernstein, Devon E. Bonner, Tiffany Busa, Ingrid Cristian, Precilla D’Souza, Jennifer Friedman, Svetlana Gorokhova, Thomas Haaf, Isabella Herman, Uğur Ufuk Işın, , Shamil R. Sunyaev

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

Genetics in Medicine · Oct 1, 2026Peer-reviewedGenetic & Genomic Medicine

Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

Nathalie M. Aceves-Ewing, Denise Grant Lanza, Paul C. Marcogliese, Di Lu, Chih‐Wei Hsu, H Hashimoto, Matthew Gonzalez, Audrey E. Christiansen, Tara L. Rasmussen, Alex J. Ho, Angelina Gaspero, Cher Sha, Mary E. Dickinson, Bo Yuan, Brian J. Shayota, , Andrew B. Crouse

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

Genetics in Medicine · Jul 9, 2026Peer-reviewedGenetic & Genomic Medicine

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski, Chloe M. Reuter, Jennefer N. Carter, Michael Blas, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, , Carlos A. Pardo-Villamizar

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

Genome biology · Jun 15, 2026Peer-reviewedGenetic & Genomic Medicine

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