Author

Elizabeth A. Geiger

University of Colorado Anschutz

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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Genomics· 2 Developmental Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Tamim H. ShaikhiD· 3 shared Curtis R. CoughliniD· 2 shared Feyza YilmaziD· 2 shared Pui–Yan KwokiD· 2 shared Stephen K. Chow· 2 shared Yulia MostovoyiD· 2 shared Ann SwilleniD· 1 shared Bernice E. MorrowiD· 1 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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3 shared papersGenomics

Tamim H. ShaikhORCID

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3 papers

Recent·Most cited

Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes

Yulia Mostovoy, Feyza Yilmaz, Stephen K. Chow, Catherine Chu, Chin Jia Lin, Elizabeth A. Geiger, Naomi J. L. Meeks, Kathryn C. Chatfield, Curtis R. Coughlin, Pui–Yan Kwok, Tamim H. Shaikh

The paper presents a high-throughput optical mapping technique to genotype structural variation in segmental duplications, identifying novel variants and refining breakpoints in microdeletion syndromes across diverse populations.

bioRxiv · Apr 30, 2020 · PreprintGenomics

The role of Kabuki Syndrome genes KMT2D and KDM6A in development: Analysis in Human sequencing data and compared to mice and zebrafish

Rwik Sen, Ezra S. Lencer, Elizabeth A. Geiger, Kenneth L. Jones, Tamim H. Shaikh, Kristin Artinger

The paper identifies transcriptional targets of KMT2D and KDM6A in Kabuki Syndrome patients and compares their effects across human, mouse, and zebrafish datasets.

bioRxiv · Apr 3, 2020 · PreprintDevelopmental Biology

The 22q11 low copy repeats are characterized by unprecedented size and structure variability

Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven J. Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui–Yan Kwok, Ming Xiao, , Joris Robert Vermeesch

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

Genome Research · Sep 1, 2019Peer-reviewedGenomics