Author

Esteban Astiazarán-Symonds

University of ArizonaORCID 0000-0001-8526-2576Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander A.L. JorgeiD· 1 shared Alicia M. Golden· 1 shared Alina HestersiD· 1 shared Alma Kuechler· 1 shared Amanda R. ClauseiD· 1 shared Andréa de Castro LealiD· 1 shared Andrea M. GrossiD· 1 shared Arif O. Khan· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander A.L. JorgeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 30, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

2 citationstop 3%

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintOct 9, 2024

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes

Jung Kim, Gina M. Ney, Megan N. Frone…·Douglas R. Stewart

This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.

1 citation

humanwhole-exome sequencing

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