Arthur S Lee

6PUBLICATIONS
61CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationEpigenetics (incl. genome methylation and epigenomics)Cell and nuclear divisionMicroelectromechanical systems (MEMS)
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Publications (6)

|Jul 03, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

|Apr 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd

|Sep 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.

Arthur S Lee, Lauren J Ayers, Michael Kosicki

|Jan 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.

Arthur S Lee, Lauren J Ayers, Michael Kosicki

|Oct 13, 2019
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.

Arthur S Lee, Jannette Rusch, Ana C Lima

|Jun 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Suzanna G M Frints, Friederike Hennig, Roberto Colombo

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Frequent Collaborators

2 joint publications

Elizabeth C Engle

2 joint publications

Ben Weisburd

2 joint publications

Michael Talkowski

1 joint publications

Suzanna G M Frints