Author

Diana Carrasco

Cook Children's Medical CenterORCID 0000-0002-4636-9247Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:clustering· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adeline Vanderver· 1 shared Alan H. BeggsiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Alyssa A. Tran· 1 shared Angad JollyiD· 1 shared Anna Raper· 1 shared Arjun TarakadiD· 1 shared Ashok BalasubramanyamiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adeline Vanderver

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1 paper

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