Author

Robert Kueffner

Icahn School of Medicine at Mount Sinai

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:clustering· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam GodzikiD· 1 shared Adam Naples· 1 shared Adriano ChiòiD· 1 shared Adrienne O’DonnelliD· 1 shared Agnieszka Kitlas GolińskaiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alessandra RenieriiD· 1 shared Alex G. Karanevich· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Adam GodzikORCID

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Author profile →

3 papers

Recent·Most cited

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

F. Kyle Satterstrom, Chiara Auwerx, Jack M. Fu, Zhancheng Zhang, Susan S. Kuo, Emily Hang, Wenhan Lu, Michelle M. Morrow, Julia Sealock, Calwing Liao, Marina Natividad Avila, Caroline M. Cusick, Christine R. Stevens, Juha M Karjalainen, Stephen J. Guter, , Mark J. Daly

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

medRxiv · Aug 26, 2026 · PreprintGenetic & Genomic Medicine

CNA Explorer and anaLyzer (CNAEL): an interactive web application and standard operating procedure enabling efficient clinical review and reporting of complex NGS-derived tumor copy number profiles

Ellen Chen, Jinlian Wang, Robert Kueffner, Hussam Al‐Kateb, Antonina Silkov, Andrew V. Uzilov, Lucas Lochovsky, Hui Li, Scott Newman

CNAEL is a web application and protocol that streamlines clinical analysis and reporting of NGS-derived tumor copy number profiles, reducing curation time significantly.

medRxiv · Oct 24, 2022 · PreprintGenetic & Genomic Medicine

Stratification of amyotrophic lateral sclerosis patients: a crowdsourcing approach

Robert Kueffner, Neta Zach, Maya Bronfeld, Raquel Norel, Nazem Atassi, Venkatachalapathy S. K. Balagurusamy, Barbara Di Camillo, Adriano Chiò, Merit Cudkowicz, Donna Eng Dillenberger, Javier Garcı́a-Garcı́a, Orla M. Hardiman, Bruce Hoff, Joshua Knight, Melanie L. Leitner, , Shihua Zhang

This study uses a crowdsourcing approach to stratify ALS patients, identifying four distinct clusters with unique predictors and improving outcome prediction.

Scientific Reports · Jan 24, 2019Peer-reviewedBioinformatics