Author

Samantha L.P. Schilit

Harvard UniversityORCID 0000-0002-8991-6327Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amy J. MacQueeniD· 1 shared Carrie Hanscom· 1 shared Corinna FriedrichiD· 1 shared Cynthia Casson MortoniD· 1 shared Ellen WilchiD· 1 shared Frank TüttelmanniD· 1 shared Michael E. TalkowskiiD· 1 shared Sabine KlieschiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Amy J. MacQueenORCID

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1 paper

Recent·Most cited

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