Arthur L Beaudet

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. Beaudet A. 2016 Curt Stern Award Introduction: Brendan Lee. Am J Hum Genet. 2017;100:395-396 pubmed publisher
  2. Stewart L, Hall A, Kang S, Shaw C, Beaudet A. High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. BMC Med Genet. 2011;12:154 pubmed publisher
    ..This evidence suggests that the frequency of disease-associated CNVs in patients with both schizophrenia and epilepsy is significantly higher than for unselected schizophrenia. ..
  3. Beaudet A. 2017 Victor A. McKusick Leadership Award. Am J Hum Genet. 2018;102:361-363 pubmed publisher
  4. Beaudet A. Allan Award lecture: Rare patients leading to epigenetics and back to genetics. Am J Hum Genet. 2008;82:1034-8 pubmed
  5. Beaudet A. The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev. 2013;84:121-32 pubmed publisher
    ..CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities...
  6. Beaudet A, Meng L. Gene-targeting pharmaceuticals for single-gene disorders. Hum Mol Genet. 2016;25:R18-26 pubmed publisher
    ..There is exciting theoretical potential for converting biopharmaceutical strategies such gene correction and CRISPR-Cas9 editing to a synthetic pharmaceutical approach. ..
  7. Beaudet A. Darwin Comes to Clinic. Trends Genet. 2017;33:1-2 pubmed publisher
    ..focuses attention on mutations in human accelerated regions (HARs), a subset of genomic regulatory elements showing accelerated evolution between chimpanzees and humans. ..