Author

Maura R. Z. Ruzhnikov

Stanford MedicineORCID 0000-0001-9610-1612Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Chloe M. ReuteriD· 2 shared Devon E. BonneriD· 2 shared Euan Angus AshleyiD· 2 shared Jonathan Adam BernsteiniD· 2 shared Matthew Thomas WheeleriD· 2 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 shared Adam JacksoniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Chloe M. ReuterORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 28, 2024

Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome

John E. Gorzynski, Shruti Marwaha, Chloe M. Reuter…·Euan Angus Ashley

The paper applies complete long read sequencing to undiagnosed patients, identifying a 16kb intragenic duplication in EHMT1 causing Kleefstra syndrome.

5 citations

humanwhole-genome sequencing

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GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

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GeneticsThe American Journal of Human GeneticsPeer-reviewedMar 19, 2020

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov…·Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

68 citationstop 4%

humanstatistical model

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