Author

Nilesh K. Desai

Baylor College of MedicineORCID 0000-0001-9663-8655Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adeline L. VanderveriD· 1 shared Austin A LarsoniD· 1 shared Brendan LeeiD· 1 shared Carlos A. BacinoiD· 1 shared Denise Perry· 1 shared Honey Nagakura· 1 shared Jill Anne RosenfeldiD· 1 shared John W. BelmontiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adeline L. VanderverORCID

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1 paper

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedDec 18, 2018

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

Lisa Emrick, Jill Anne Rosenfeld, Seema R. Lalani…·Brendan Lee

The paper investigates 17p13.3 deletions between YWHAE/CRK and PAFAH1B1, identifying white matter lesions and hypermobility, and narrows the critical region to 345 kb with RTN4RL1 as a candidate gene.

15 citations

humanstatistical model

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