Author

Ellen Wilch

Brigham and Women's HospitalORCID 0009-0008-5381-5437Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cynthia Casson MortoniD· 2 shared Abna AjeeshiD· 1 shared Amy J. MacQueeniD· 1 shared Caroline D. RobsoniD· 1 shared Carrie Hanscom· 1 shared Christopher A. WalshiD· 1 shared Corinna FriedrichiD· 1 shared Elijah L. MenaiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cynthia Casson MortonORCID

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2 papers

Recent·Most cited

Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements

Rebecca Andersen, Ibrahim F. Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L. Mena, Sami Samir Amr, Hila Romi, Margaret A. Kenna, Caroline D. Robson, Ellen Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A. Walsh, Cynthia Casson Morton

The paper identifies chromosomal structural rearrangements disrupting long non-coding RNAs (lncRNAs) in individuals with rare germline disorders, highlighting potential pathogenic roles of lncRNA disruptions.

Human Genetics · Jul 1, 2024Peer-reviewedGenetic & Genomic Medicine

SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility

Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E. Talkowski, Frank Tüttelmann, Amy J. MacQueen, Cynthia Casson Morton

This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.

The American Journal of Human Genetics · Dec 19, 2019Peer-reviewedGenetics