Author

Sajini Jayakody

University of Michigan

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 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1

Frequent Co-Authors

Jacob Otto KitzmaniD· 2 shared Mariam MaksutovaiD· 2 shared Alexander A.L. JorgeiD· 1 shared Alexandru SaveanuiD· 1 shared Ana Claudia KeselmaniD· 1 shared Andrew Nahum DauberiD· 1 shared Anne BarlieriD· 1 shared Ayse Bilge OzeliD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jacob Otto KitzmanORCID

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2 papers

Recent·Most cited

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh, Sebastian Alexis Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. S. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Debora Giselle Braslavsky, Ana Claudia Keselman, Ignacio Bergadá, , Sally Ann Camper

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

The American Journal of Human Genetics · Jul 15, 2021Peer-reviewedGenetic & Genomic Medicine

Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk

Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, Rosemary M. Lemons, Sajini Jayakody, Mariam Maksutova, Jacob Otto Kitzman

The paper functionally tests MSH2 missense variants to determine their impact on Lynch Syndrome risk, finding most are neutral and providing a comprehensive functional map.

The American Journal of Human Genetics · Dec 23, 2020Peer-reviewedGenetics