Author

Martin Sillesen

Copenhagen University HospitalORCID 0000-0001-9494-5475Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alan H. BeggsiD· 1 shared Alyssa A. Tran· 1 shared Anita E. BeckiD· 1 shared Anna Bican· 1 shared Ashley AndrewsiD· 1 shared Ashok BalasubramanyamiD· 1 shared Beverly Berg-Rood· 1 shared Carlos A. BacinoiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alan H. BeggsORCID

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1 paper

Recent·Most cited

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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