Author

Janet L. Cunningham

Uppsala UniversityORCID 0000-0001-7876-7779Unclaimed 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· 4 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 3 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Herbert M. LachmaniD· 4 shared Peter J. van der SpekiD· 4 shared Erika Pedrosa· 3 shared Jennifer FrankovichiD· 3 shared Allan Schornagel· 2 shared Anjana SoorajkumariD· 2 shared Dhanya Vettiatil· 2 shared Noelle SchlenkiD· 2 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Herbert M. LachmanORCID

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4 papers

Recent·Most cited

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

Jennifer Frankovich, Robert Dubin, Chetna Natarajan, Noelle Schlenk, Erika Pedrosa, Erin Stolte, Nicole Rice, Anjana Soorajkumar, Dhanya Vettiatil, Peter J. van der Spek, Janet L. Cunningham, 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.

medRxiv · May 30, 2026 · PreprintGenetic & Genomic Medicine

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, Erika Pedrosa, Allan Schornagel, John Shearer Lambert, Isadora Pinheiro Costa, Joseph McDonald, Sigrid M.A. Swagemakers, Peter J. van der Spek, Jennifer Frankovich, Janet L. Cunningham, 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.

Developmental Neuroscience · Feb 9, 2026Peer-reviewedGenetic & Genomic Medicine

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, Erika Pedrosa, Refıa Nur Baykara, Noelle Schlenk, Shahina Bano Maqbool, Hedwig Dolstra, Jacqueline Marino, Jacob Edinger, Julia M. Shea, Gonzalo Laje, Sigrid M. A. Swagemakers, Siamala Sinnadurai, Zhengdong D. Zhang, , 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.

Developmental Neuroscience · Oct 11, 2024Peer-reviewedGenetic & Genomic Medicine

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing

Rosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Janet L. Cunningham, Sigrid M. A. Swagemakers, Peter J. van der Spek

This study identifies ultra-rare genetic variants in PANS patients through exome and whole genome sequencing, revealing candidate genes involved in both immune and neuronal pathways.

Scientific Reports · Jun 30, 2022Peer-reviewedGenetic & Genomic Medicine