Author

Elia Pestana‐Knight

Cleveland ClinicORCID 0000-0001-9068-4167Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Organism:human· 1

Frequent Co-Authors

Dennis LaliD· 2 shared Alex MilinovichiD· 1 shared Alina IvaniukiD· 1 shared Arthur StefanskiiD· 1 shared Christian M. BoßelmanniD· 1 shared Costin LeuiD· 1 shared Eduardo Pérez‐PalmaiD· 1 shared Gokul Krishnaswamy· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Dennis LalORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 24, 2023

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang…·Dennis Lal

The paper uses natural language processing and phenome-wide analysis to identify tachycardia as a significant comorbidity in CDKL5 deficiency disorder.

DOI 10.1101/2023.06.24.23291719

humanelectronic health records

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Genetic & Genomic MedicineEpilepsiaPeer-reviewedNov 17, 2020

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability:A systematic review and meta-analysis

Arthur Stefanski, Yamile Calle‐López, Costin Leu…·Dennis Lal

This paper performs a systematic review and meta-analysis of 79 studies to compare diagnostic yields of next-generation sequencing in epilepsy, autism spectrum disorder, and intellectual disability, finding higher yields with exome sequencing.

163 citations

statistical modelbenchmarking

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