Author

Robyn M. Busch

Cleveland ClinicORCID 0000-0002-5442-4912Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Ingmar BlümckeiD· 2 shared Lisa FergusoniD· 2 shared Orrin DevinskyiD· 2 shared Ahmad A. BeydouniD· 1 shared Alexej S. AbyzoviD· 1 shared Alica M. GoldmaniD· 1 shared Alice Lee· 1 shared Alison AndersoniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Ingmar BlümckeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineNature NeurosciencePeer-reviewedOct 1, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil…·Alica M. Goldman

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

72 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsNature GeneticsPeer-reviewedJan 12, 2023

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae…·Eduardo Maury

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

123 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineBrainPeer-reviewedOct 13, 2022

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Javier A. López-Rivera, Costin Leu, Marie Macnee…·Dennis Lal

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

74 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky