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Related Research Units

Neurology Research
Engle Laboratory Research

Research Overview

In the Engle Lab, Dr. Arthur Lee’s current work focuses on two major areas:

  1. Identifying pathogenic structural variants (e.g., deletions, duplications, inversions, etc.) from patient whole genome sequencing data.
  2. Generating and analyzing single cell functional genomics data (e.g., scATAC-seq) for rare cell subtypes that are sparsely represented in public databases.

Ultimately, he hopes to integrate these layers of next-generation sequencing data as a powerful lever into rare, non-coding disease biology. Arthur collaborates closely with the lab of Daniel MacArthur, PhD at the Broad Institute of MIT and Harvard, where he is a Postdoctoral Scholar in the Program in Medical and Population Genetics.

Research Background

Dr. Arthur Lee joined the Engle Lab in 2017 after earning his MD/PhD at Washington University School of Medicine in St. Louis with a PhD in Computational and Systems Biology. He conducted his doctoral research in the lab of Don Conrad, PhD, studying the impact of rare copy-number variants on common infertility in humans and mice.

Publications

  1. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Nat Commun. 2024 Sep 27; 15(1):8268. View Abstract
  2. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17; 101216. View Abstract
  3. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv. 2024 Mar 26. View Abstract
  4. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. medRxiv. 2023 Dec 27. View Abstract
  5. Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Nat Commun. 2019 10 11; 10(1):4626. View Abstract
  6. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Hum Mutat. 2019 12; 40(12):2270-2285. View Abstract
  7. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021. View Abstract
  8. Two tissue-resident progenitor lineages drive distinct phenotypes of heterotopic ossification. Sci Transl Med. 2016 11 23; 8(366):366ra163. View Abstract
  9. Evolutionary genetics of the human Rh blood group system. Hum Genet. 2012 Jul; 131(7):1205-16. View Abstract
  10. Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis. Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2):529-34. View Abstract
  11. Copy number variation and evolution in humans and chimpanzees. Genome Res. 2008 Nov; 18(11):1698-710. View Abstract
  12. Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. Hum Mol Genet. 2008 Apr 15; 17(8):1127-36. View Abstract
  13. Diet and the evolution of human amylase gene copy number variation. Nat Genet. 2007 Oct; 39(10):1256-60. View Abstract

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