Author

Esther Cha

Northwestern University

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

Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:electronic health records· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Alfred L. GeorgeiD· 2 shared Carlos G. VanoyeiD· 2 shared Aarno V. PalotieiD· 1 shared Alexander T. DengiD· 1 shared Alexandra E. Hong· 1 shared Alexis R. HeidlebaughiD· 1 shared Alina IvaniukiD· 1 shared Amber Freed· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 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 papersNeuroscience

Alfred L. GeorgeORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

KCNH1 variants associated with neurodevelopmental disorders exhibit prominent gain-of-function

Christopher H. Thompson, Christine Q. Simmons, Isabella K. He, Nirvani P. Jairam, Reshma R. Desai, Esther Cha, Alexandra E. Hong, Jean‐Marc DeKeyser, Linda Laux, Michaelle Jinnette, Carlos G. Vanoye, Alfred L. George

The paper investigates functional properties of KCNH1 variants linked to neurodevelopmental disorders, finding most exhibit gain-of-function characteristics.

Brain · Oct 27, 2026Peer-reviewedNeuroscience

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

Tobias Brünger, Ilona Krey, Suyeon Kim, Chiara Klöckner, Scott J. Myers, Katrine M. Johannesen, Arthur Stefanski, Gary Taylor, Eduardo Pérez‐Palma, Marie Macnee, Stéphanie Schorge, Rebekka S. Dahl, Hongjie Yuan, Riley E. Perszyk, Sukhan Kim, , Dennis Lal

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

medRxiv · Mar 6, 2026 · PreprintGenetic & Genomic Medicine