Author

Erwin P. Bottinger

Cleveland Clinic

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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Genomics· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:drug response / drug discovery· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adolfo CorreaiD· 2 shared Andre FrankeiD· 2 shared Andrea SaltzmaniD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared Arcturus Wang· 2 shared Ben WeisburdiD· 2 shared Benjamin M. NealeiD· 2 shared Beryl B. CummingsiD· 2 shared

Activity by Year

2020-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Adolfo CorreaORCID

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Author profile →

3 papers

Recent·Most cited

Rapid response to the Alpha-1 Adrenergic Agent Phenylephrine in the Perioperative Period is Impacted by Genomics and Ancestry

Stéphane Wenric, Janina M. Jeff, Thomas T. Joseph, Muh‐Ching Yee, Gillian M. Belbin, CBIPM Genomics Team, Aniwaa Owusu Obeng, Stephen B. Ellis, Erwin P. Bottinger, Omri Gottesman, Matthew A. Levin, Eimear E. Kenny

This study identifies genetic factors influencing blood pressure response to phenylephrine in perioperative settings, revealing population-specific differences and rare variants associated with non-response.

The Pharmacogenomics Journal · Nov 9, 2020Peer-reviewedGenomics

Evaluating potential drug targets through human loss-of-function genetic variation

Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alföldi, Richard C. Trembath, David A. van Heel, Mark J. Daly, Genome Aggregation Database Production Team, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, , Craig Hanis

The paper evaluates potential drug targets using loss-of-function genetic variants from gnomAD, highlighting the importance of deep curation and targeted recall studies for drug discovery.

Nature · May 27, 2020Peer-reviewedGenomics

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Pankaj Chothani, Miriam Jane Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schäfer, Owen J. L. Rackham, Jessica Alföldi, Anne O’Donnell‐Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Irina M. Armean, , Clicerio González

The paper systematically studies uORF variants in 15,708 genomes, showing they are under strong negative selection and contribute to disease.

Nature Communications · May 27, 2020Peer-reviewedGenomics