Author

Katherine M. Mackenzie

Stanford MedicineORCID 0000-0002-1302-2298Unclaimed ORCID profile · follow to get notified of new preprints

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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

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

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick, Jill Anne Rosenfeld, Katherine M. Mackenzie, Laurie A. Robak, Matthew Thomas Wheeler, Lindsay Catherine Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, , 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.

The American Journal of Human Genetics · Mar 19, 2020Peer-reviewedGenetics