Author

Amy Siemon

Nationwide Children's Hospital

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alina KurolapiD· 1 shared Ashita Dave‐Wala· 1 shared Claudia G. Gonzaga-JaureguiiD· 1 shared Dana E. BrowniD· 1 shared Daniela ChoukairiD· 1 shared Dennis BartholomewiD· 1 shared Dong LiiD· 1 shared Dov TiosanoiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alina KurolapORCID

Mutual co-authors in cluster

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1 paper

Recent·Most cited

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brügger, Katheryn Grand, Kirsty M. McWalter, María J. Guillen Sacoto, Emma L. Wakeling, Jane A. Hurst, Michael March, Elizabeth J. K. Bhoj, Małgorzata J.M. Nowaczyk, , Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

Science Advances · May 12, 2021Peer-reviewedGenetic & Genomic Medicine