Rachel Slaugh, MS, CGC  r.slaugh@wustl.edu

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Genetic Counselor II
Genetics and Genomic Medicine

phone: (314) 454-6093

Education

  • BS, Cornell University1982
  • MS, University of Colorado Health Science Center1990

Licensure and Board Certification

  • 1990 - 2021American Board of Genetic Counseling

Recent Publications view all (11)


Publication Co-Authors

  1. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Genet Med .. 2021;10:1038. PMID:34163037 
  2. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy Genet Med. 2020;8:1413-1417. PMID:32366965 
  3. Lysosomal storage diseases RN. 2008;71(7):33-7. PMID:18720909 
  4. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor Am J Hum Genet . 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4.. 2007;80(2):345-52. PMID:17236139 
  5. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. Am J Med Genet A. 2003;120A(1):23-7. PMID:12794687 
  6. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet. 2000;37(9):663-8. PMCID:PMC1734699  PMID:10978355 
  7. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet. 1999;83(3):201-6. PMID:10096597 
  8. Linkage of preaxial polydactyly type 2 to 7q36. Am J Med Genet. 1995;58(2):128-35. PMID:8533803 
  9. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol. 1995;76(1):66-9. PMID:7793407 
  10. Diagnosis of human heritable diseases--laboratory approaches and outcomes. Clin Chem. 1995;41(5):785-94; discussion 813-6. PMID:7729068 
  11. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest. 1994;94(4):1477-83. PMCID:PMC295287  PMID:7929823 
Last updated: 08/31/2021
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