Author

Ruth Bunker Lathi

Stanford MedicineORCID 0000-0003-2159-2714Unclaimed 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· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Marina SirotaiD· 3 shared Michael P. SnyderiD· 3 shared Mona Amin‐BeidokhtiiD· 3 shared Svetlana A. YatsenkoiD· 3 shared Aleksandar RajkoviciD· 2 shared Christina G. TiseiD· 2 shared David K. StevensoniD· 2 shared Gary Michael ShawiD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Marina SirotaORCID

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3 papers

Recent·Most cited

The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death

Svetlana A. Yatsenko, Amrita Nagasuri, Vishal Soman, Aryo Garakani, Mona Amin‐Beidokhti, Uma Chandran, Mahmoud Aarabi, Tomiko Oskotsky, Syed Hassan Bukhari, Catherine Hypes, Zhiping Gu, Ruth Monteiro, Sammi E. Smith, Bryan Walters, Michael P. Snyder, , Aleksandar Rajkovic

The paper introduces the Intolerome Database, a curated resource of genes essential for human viability, to help prioritize genomic variants in cases of stillbirth, pregnancy loss, and neonatal death.

Genetics in Medicine · Mar 3, 2026Peer-reviewedGenetic & Genomic Medicine

Genetic Variants in Recurrent Euploid Pregnancy Loss

Mona Amin‐Beidokhti, Michelle M. Halstead, Marta Rodríguez-Escribà, Christina G. Tise, Jonathan Adam Bernstein, Hakan Çakmak, Elizabeth Pollard, Linda C. Giudice, Katrina Merrion, Gary Michael Shaw, Alison B. Edelman, Maureen K. Baldwin, David K. Stevenson, Mary D. Stephenson, Michael P. Snyder, , Aleksandar Rajkovic

The paper identifies genetic variants in 30 families with unexplained euploid pregnancy loss, finding monogenic causes in 25% of cases and expanding understanding of early human lethality.

medRxiv · Oct 1, 2025 · PreprintGenetic & Genomic Medicine

Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants

Mona Amin‐Beidokhti, Jia-Hua Qu, Shweta Belur, Hakan Çakmak, Eleni A. Greenwood, Ruth Bunker Lathi, Marina Sirota, Michael P. Snyder, Svetlana A. Yatsenko, Aleksandar Rajkovic

The paper identifies 138 genes and variants associated with prenatal lethality across ethnic groups, suggesting preconception screening could identify couples at risk for miscarriage.

medRxiv · May 25, 2023 · PreprintGenetic & Genomic Medicine