Linda Manwaring

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Genetic counselor

phone: (314) 454-6093


  • BS, Summa cum laude, James Madison University1992
  • MS, University of Pittsburgh1996

Licensure and Board Certification

  • 1996 - 2021American Board of Genetic Counseling
  • 2020 - 2023IL, State of Illinois Genetic Counselor license

Recent Publications view all (26)

  1. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021;108(2):346-356. PMID:33513338 
  2. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020;6(49). PMCID:PMC7821880  PMID:33268356 
  3. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet . 2019;27:1081-1089. PMID:30778173  
  4. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females Mol Pyschiatry . 2018;23(2):222-230. PMID:27550844  
  5. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results Genet Med. 2017;19(9):1-40-1048. PMID:28252636 
  6. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome Sci Rep. 2016;6: 21167. PMID:26888576 
  7. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. m J Med Genet A. 2016;170(3):583-93. PMID:26601658 
  8. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome J Med Genet. 2015;52(11):754-761. PMID:26264232 
  9. Selective cognitive and psychiatric manifestations in Wolfram Syndrome Orphanet J Rare Dis. 2015;10:66. PMCID:PMC4450481  PMID:26025012 
  10. Fabry disease in infancy and early childhood: a systematic literature review Genet Med. 2015;17(5):323-30. PMID:25232851  
  11. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome J AAPOS. 2014;18(5):461-465 . PMID:25439303 
  12. Phenotypic characteristics of early Wolfram syndrome Orphanet J Rare Dis. 2013;8:64. PMID:23981289 
  13. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions Am J Med Genet A. 2013;161A(4):711-716. PMID:23494996 
  14. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay Am J Med Genet A. 2013;161A(2):377-81. PMID:23300014 
  15. Early brain vulnerability in Wolfram syndrome PLoS One. 2012;7(7):e40604. PMID:22792385  
  16. Balance impairment in individuals with Wolfram syndrome. Gait Posture. 2012;36(3):619-624. PMID:22771154 
  17. Share

    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions J Med Genet. 2011;48(12):840-50. PMID:21984752 

  18. A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1 Endocr Pract. 2011;17(3):e63-7. PMID:21454242 
  19. Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma Pediatr Radiol. 2008;38(12):1293-1299. PMID:18846370 
  20. Lysosomal storage diseases. RN. 2008;71(7):33-37. PMID:18720909 
  21. Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease Nephrol Dial Transplant. 2007;22(7):1920-5. PMID:17395657 
  22. Late-onset optic pathway tumors in children with neurofibromatosis 1 Neurology. 2004;63(10):1944-1946. PMID:15557519 
  23. Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) Ann Surg. 2004;239(5):637-45. PMID:15082967  
  24. Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome Am J Med Genet A. 2003;122A(2):95-99. PMID:12955759 
  25. Vertebral anomalies in a new family with ODED syndrome... 2000 Jun;57(6):444-8. doi: 10.1034/j.1399-0004.2000.570608.x.PMID: 10905665 Clin Genet. 2000;57(6):444-338. 
  26. Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred Hum Mol Genet. 1994;3(6):1013-1014. PMID:7951214 
Last updated: 07/01/2021
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