Author

Mitzi Spesny

Hospital Nacional de Niños

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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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:gene regulatory network inference· 1 Research Focus:genome assembly· 1 Approach:matrix factorization· 1

Frequent Co-Authors

Andrés Ruiz‐LinaresiD· 2 shared Bárbara KremeyeriD· 2 shared Carlos López‐JaramilloiD· 2 shared Carrie E. BeardeniD· 2 shared Chiara SabattiiD· 2 shared Gabriel CastrillóniD· 2 shared Gabriel MacayaiD· 2 shared Gabriel Montoya· 2 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Andrés Ruiz‐LinaresORCID

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2 papers

Recent·Most cited

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates

Jae Hoon Sul, Susan K. Service, Alden Huang, Vasily E. Ramensky, Sun‐Goo Hwang, Terri M. Teshiba, YoungJun Park, Anil P. S. Ori, Zhongyang Zhang, Niamh Mullins, Loes M. Olde Loohuis, Scott C. Fears, Carmen Araya, Xinia Araya, Mitzi Spesny, , Nelson B. Freimer

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

Translational Psychiatry · Feb 24, 2020Peer-reviewedGenetics

Understanding the Hidden Complexity of Latin American Population Isolates

Jazlyn A. Mooney, Christian D. Huber, Susan K. Service, Jae Hoon Sul, Clare Diana Marsden, Zhongyang Zhang, Chiara Sabatti, Andrés Ruiz‐Linares, Gabriel Bedoya, Nelson B. Freimer, Kirk E. Lohmueller, Scott C. Fears, Bárbara Kremeyer, Carmen Araya Lic, Xinia Araya Lic, , Giovanni Coppola

The paper analyzes genomic diversity in Latin American population isolates, finding increased genetic diversity and consanguinity compared to the Finnish isolate.

The American Journal of Human Genetics · Oct 25, 2018Peer-reviewedGenomics