Author

Eric T. Rush

Children's Mercy HospitalORCID 0000-0002-8147-7315Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:clustering· 1 Assay:DNA methylation· 1 Assay:imaging· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Adam M. Walter· 1 shared Ahmed T. AbdelmoityiD· 1 shared Alexander A.L. JorgeiD· 1 shared Alina HestersiD· 1 shared Alma Kuechler· 1 shared Amanda R. ClauseiD· 1 shared Ana S.A. CoheniD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron M. WengerORCID

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3 papers

Recent·Most cited

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

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama AlAbdi, Hesham Aldhalaan, Fowzan Sami Alkuraya, , Frank J. Kaiser

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

Nature Communications · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan Manickavasagam Amudhavalli, John T. Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo A. Baybayan, Bradley Belden, Courtney Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, , Tomi Pastinen

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

Genetics in Medicine · Mar 16, 2022Peer-reviewedGenetic & Genomic Medicine

Dental and facial characteristics of osteogenesis imperfecta type V

Jean‐Marc Retrouvey, Doaa Taqi, Faleh Tamimi, Didem Dagdeviren, Francis H. Glorieux, Brendan Lee, Renna C. Hazboun, Deborah Krakow, Vernon Reid Sutton, Michael B. Bober, Paul W. Esposito, David R. Eyre, Danielle Gomez, Gerald F. Harris, Tracy Smith Hart, , Frank Rauch

This study describes the dental and craniofacial characteristics of OI type V, finding missing permanent teeth but not dentinogenesis imperfecta, and a distinct craniofacial phenotype compared to other OI types.

European Journal of Medical Genetics · Dec 26, 2018Peer-reviewedGenetics