Author

John Shearer Lambert

University College DublinORCID 0000-0001-5404-2415Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Allan Schornagel· 1 shared Anjana SoorajkumariD· 1 shared Dhanya Vettiatil· 1 shared Erika Pedrosa· 1 shared Herbert M. LachmaniD· 1 shared Isadora Pinheiro Costa· 1 shared Janet L. CunninghamiD· 1 shared Jennifer FrankovichiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Allan Schornagel

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1 paper

Recent·Most cited

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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