Author

Evan H. Baugh

Columbia University Irving Medical Center

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

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 3 Organism:human· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Alejandro D. IglesiasiD· 1 shared Alex E. Lash· 1 shared Alexis R. HeidlebaughiD· 1 shared Alina KurolapiD· 1 shared Amanda GerardiD· 1 shared Andrew S. AlleniD· 1 shared Angad JollyiD· 1 shared Ange‐Line BrueliD· 1 shared

Activity by Year

2016-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 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

1 shared paperGenetic & Genomic Medicine

Alejandro D. IglesiasORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, , James R. Lupski

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

medRxiv · Mar 1, 2023 · PreprintGenetic & Genomic Medicine

Ancestry adjustment improves genome-wide estimates of regional intolerance

Tristan J. Hayeck, Nicholas Stong, Evan H. Baugh, Ryan S. Dhindsa, Tychele N. Turner, Ayan Malakar, Timothy L. Mosbruger, Grace Tzun-Wen Shaw, Yuncheng Duan, Iuliana Ionita‐Laza, David B. Goldstein, Andrew S. Allen

This study shows that adjusting for ancestry improves genome-wide estimates of regional intolerance by incorporating demographic history, leading to better variant classification.

Genetics · Apr 6, 2022Peer-reviewedGenetics

Robust Classification of Protein Variation Using Structural Modeling and Large-Scale Data Integration

Evan H. Baugh, Riley Simmons-Edler, Christian L. Mueller, Rebecca F. Alford, Natalia Volfovsky, Alex E. Lash, Richard Bonneau

VIPUR integrates sequence and structural modeling to classify protein variants, showing improved accuracy and interpretability in predicting deleterious mutations across organisms and diseases.

Nucleic Acids Research · Feb 28, 2016Peer-reviewedBioinformatics