Author

Jennifer Frankovich

Stanford MedicineORCID 0000-0001-7356-5617Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Erika Pedrosa· 3 shared Herbert M. LachmaniD· 3 shared Janet L. CunninghamiD· 3 shared Peter J. van der SpekiD· 3 shared Anjana SoorajkumariD· 2 shared Dhanya Vettiatil· 2 shared Noelle SchlenkiD· 2 shared Robert A. Dubin· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Erika Pedrosa

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 30, 2026

Ultrarare Variants in Genes Involved in Intestinal Microbiota and Permeability Homeostasis in Youth with Developmental and Neuropsychiatric Deteriorations

Jennifer Frankovich, Robert Dubin, Chetna Natarajan…·Herbert M. Lachman

The paper identifies ultrarare genetic variants in intestinal homeostasis genes in youth with neuropsychiatric deteriorations and gastrointestinal symptoms, suggesting a potential link to disease pathogenesis.

DOI 10.64898/2026.05.29.26353976

humanDNA methylation

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Genetic & Genomic MedicineDevelopmental NeurosciencePeer-reviewedFeb 9, 2026

Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders

Dhanya Vettiatil, Anjana Soorajkumar, Robert A. Dubin…·Herbert M. Lachman

The paper identifies ultrarare variants in DNA damage repair and mitochondrial genes in pediatric neuropsychiatric syndromes and neurodevelopmental disorders, linking them to innate immune pathways and gut microbiome homeostasis.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicineDevelopmental NeurosciencePeer-reviewedOct 11, 2024

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

Janet L. Cunningham, Jennifer Frankovich, Robert A. Dubin…·Herbert M. Lachman

The paper reports mutations in DNA damage repair genes in patients with acute psychiatric symptoms or regression, suggesting a link between DNA repair defects and inflammatory brain conditions.

11 citations

human

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