Autism spectrum disorder: An omics perspective

Proteomics - Clinical Applications

Volumn 9, Issue 1-2, 2015, Pages 159-168

  Woods, Alisa G ^a,b   Wormwood, Kelly L ^a   Wetie, Armand G Ngounou ^a   Aslebagh, Roshanak ^a   Crimmins, Bernard S ^b   Holsen, Thomas M ^c   Darie, Costel C ^a  

^a CLARKSON UNIVERSITY   (United States)

^b STATE UNIVERSITY OF NEW YORK   (United States)

^c Clarkson University   (United States)

Author keywords

Autism spectrum disorder; Neurodevlopmental disorders

Indexed keywords

ATTENTION DEFICIT DISORDER; AUTISM; COMORBIDITY; FRAGILE X SYNDROME; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MASS SPECTROMETRY; METABOLOMICS; NONHUMAN; OXIDATIVE STRESS; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN PROCESSING; PROTEIN PROTEIN INTERACTION; PROTEOMICS; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REVIEW; SMITH LEMLI OPITZ SYNDROME; SURFACE ENHANCED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; TWO DIMENSIONAL GEL ELECTROPHORESIS; URINALYSIS; ANIMAL; CHILD DEVELOPMENT DISORDERS, PERVASIVE; METABOLISM; PROCEDURES;

BIOLOGICAL MARKER; PROTEOME;

ANIMALS; BIOLOGICAL MARKERS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; HUMANS; MASS SPECTROMETRY; PROTEOME; PROTEOMICS;

EID: 84922774692     PISSN: 18628346     EISSN: 18628354     Source Type: Journal    
DOI: 10.1002/prca.201400116     Document Type: Review

References (110)

1. APA, Diagnostic and Statistical Manual of Mental Disorders. 5th ed. American Psychiatric Association, Arlington, VA 2013.
2. Woods, A. G., Mahdavi, E., Ryan, J. P., Treating clients with Asperger's syndrome and autism. Child Adolesc. Psychiatry Ment. Health 2013, 7, 32.
3. APA, Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision. American Psychiatric Association, Arlington, VA 2000.
4. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators, and Centers for Disease Control and Prevention, Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill. Summ. 2014, 63, 1-21.
5. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators, and Centers for Disease Control and Prevention, Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill. Summ. 2007, 56, 12-28.
6. Quaak, I., Brouns, M. R., Van de Bor, M., The dynamics of autism spectrum disorders: how neurotoxic compounds and neurotransmitters interact. Int. J. Environ. Res. Public Health, 2013, 10, 3384-3408.
7. Lai, M. C., Lombardo, M. V., Baron-Cohen, S., Autism. Lancet 2014, 383, 896-910.
8. Herbert, M. R., Contributions of the environment and environmentally vulnerable physiology to autism spectrum disorders. Curr. Opin. Neurol. 2010, 23, 103-110.
9. Ousley, O., Cermak, T., Autism Spectrum Disorder: defining Dimensions and Subgroups. Curr. Dev. Disord. Rep. 2014, 1, 20-28.
10. Xu, L. M., Li, J. R., Huang, Y., Zhao, M. et al., AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012, 40(Database issue), D1016-D1022.
11. State, M. W., Levitt, P., The conundrums of understanding genetic risks for autism spectrum disorders. Nat. Neurosci. 2011, 14, 1499-1506.
12. Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C. et al., Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet. 2012, 8, e1002521.
13. Banerjee, S., Riordan, M., Bhat, M. A., Genetic aspects of autism spectrum disorders: insights from animal models. Front. Cell. Neurosci. 2014, 8, 58.
14. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P. et al., Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med. 1995, 25, 63-77.
15. Le Couteur, A., Bailey, A., Goode, S., Pickles, A. et al., A broader phenotype of autism: the clinical spectrum in twins. J. Child Psychol. Psychiatry 1996, 37, 785-801.
16. Veenstra-VanderWeele, J., Cook, E. H.Jr., Molecular genetics of autism spectrum disorder. Mol. Psychiatry 2004, 9, 819-832.
17. Betancur, C., Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011, 1380, 42-77.
18. Nickl-Jockschat, T. and Michel, T. M., [Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?]. Nervenarzt 2011, 82, 618-627.
19. Bernier, R., Golzio, C., Xiong, B., Stessman, H. A. et al., Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014, 158, 263-276.
20. Lanz, T. A., Guilmette, E., Gosink, M. M., Fischer, J. E. et al., Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action. Mol. Autism 2013, 4, 45.
21. Pinto, D., Delaby, E., Merico, D., Barbosa, M. et al., Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am. J. Hum. Genet. 2014, 94, 677-694.
22. Gurrieri, F., Working up autism: the practical role of medical genetics. Am. J. Med. Genet. C Semin. Med. Genet. 2012, 160C, 104-110.
23. Carter, M. T., Scherer, S. W., Autism spectrum disorder in the genetics clinic: a review. Clin. Genet. 2013, 83, 399-407.
24. Landrigan, P., Lambertini, L., Birnbaum, L., A research strategy to discover the environmental causes of autism and neurodevelopmental disabilities. Environ. Health Perspect. 2012, 120, a258-a260.
25. Shelton, J. F., Hertz-Picciotto, I., Pessah, I. N., Tipping the balance of autism risk: potential mechanisms linking pesticides and autism. Environ. Health Perspect. 2012, 120, 944-951.
26. Shelton, J. F., Geraghty, E. M., Tancredi, D. J., Delwiche, L. D. et al., Neurodevelopmental Disorders and Prenatal Residential Proximity to Agricultural Pesticides: the CHARGE Study. Environ. Health Perspect. 2014, 122, 1103-1109.
27. Howard, P. H. and Muir, D. C., Identifying new persistent and bioaccumulative organics among chemicals in commerce. Environ. Sci. Technol. 2010, 44, 2277-2285.
28. Woodruff, T. J., Zota, A. R., Schwartz, J. M., Environmental chemicals in pregnant women in the United States: NHANES 2003-2004. Environ. Health Perspect. 2011, 119, 878-885.
29. van der Veen, I., de Boer, J., Phosphorus flame retardants: properties, production, environmental occurrence, toxicity, and analysis. Chemosphere 2012, 88, 1119-1153.
30. Reemtsma, T., Quintana, J. B., Rodil, R., Garcia-Lopez, M., Rodriguez, I., Organophosphorus flame retardants and plasticizers in water and air I. Occurrence and fate. Trends Anal. Chem. 2008. 27, 727-737.
31. Stapleton, H. M., Klosterhaus, S., Eagle, S., Fuh, J. et al., Detection of organophosphate flame retardants in furniture foam and U.S. house dust. Environ. Sci. Technol. 2009, 43, 7490-7495.
32. Van den Eede, N., Dirtu, A. C., Neels, H., Covaci, A., Analytical developments and preliminary assessment of human exposure to organophosphate flame retardants from indoor dust. Environ. Int. 2011, 37, 454-461.
33. Kurebayashi, H., Tanaka, A., Yamaha, T., Metabolism and disposition of the flame retardant plasticizer, tri-p-cresyl phosphate, in the rat. Toxicol. Appl. Pharmacol. 1985, 77, 395-404.
34. Sasaki, K., Suzuki, T., Takeda, M., Uchiyama, M., Metabolism of phosphoric acid triesters by rat liver homogenate. Bull. Environ. Contam. Toxicol. 1984, 33, 281-288.
35. Nickl-Jockschat, T., Michel, T. M., The role of neurotrophic factors in autism. Mol. Psychiatry 2011, 16, 478-490.
36. Theoharides, T. C., Kempuraj, D., Redwood, L., Autism: an emerging 'neuroimmune disorder' in search of therapy. Expert Opin. Pharmacother. 2009, 10, 2127-2143.
37. Veenstra-VanderWeele, J., Blakely, R. D., Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. Neuropsychopharmacology 2012, 37, 196-212.
38. Woods, A. G., Sokolowska, I., Taurines, R., Gerlach, M. et al., Potential biomarkers in psychiatry: focus on the cholesterol system. J. Cell Mol. Med. 2012, 16, 1184-1195.
39. Lord, C., Risi, S., Lambrecht, L., Cook, E. H. et al., The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J. Autism Dev. Disord. 2000, 30, 205-223.
40. Lord, C., Risi, S., DiLavore, P. S., Shulman, C. et al., Autism from 2 to 9 years of age. Arch. Gen. Psychiatry 2006, 63, 694-701.
41. Dereu, M., Roeyers, H., Raymaekers, R., Meirsschaut, M., Warreyn, P., How useful are screening instruments for toddlers to predict outcome at age 4? General development, language skills, and symptom severity in children with a false positive screen for autism spectrum disorder. Eur. Child Adolesc. Psychiatry 2012, 21, 541-551.
42. Taurines, R., Dudley, E., Conner, A. C., Grassl, J. et al., Serum protein profiling and proteomics in autistic spectrum disorder using magnetic bead-assisted mass spectrometry. Eur. Arch. Psychiatry Clin. Neurosci. 2010, 260, 249-255.
43. Taurines, R., Dudley, E., Grassl, J., Warnke, A. et al., Proteomic research in psychiatry. J. Psychopharmacol. 2011, 25, 151-196.
44. Ngounou Wetie, A. G., Wormwood, K., Thome, J., Dudley, E. et al., A pilot proteomic study of protein markers in autism spectrum disorder. Electrophoresis 2014, 35, 2046-2054.
45. Kotani, K., Yamada, T., Gugliucci, A., Paired measurements of paraoxonase 1 and serum amyloid A as useful disease markers. Biomed. Res. Int. 2013, 2013, 481-437.
46. Furlong, C. E., Suzuki, S. M., Stevens, R. C., Marsillach, J. et al., Human PON1, a biomarker of risk of disease and exposure. Chem. Biol. Interact. 2010, 187, 355-361.
47. Gaidukov, L., Viji, R. I., Yacobson, S., Rosenblat, M. et al., ApoE induces serum paraoxonase PON1 activity and stability similar to ApoA-I. Biochemistry 2010, 49, 532-538.
48. Eskenazi, B., Huen, K., Marks, A., Harley, K. G. et al., PON1 and neurodevelopment in children from the CHAMACOS study exposed to organophosphate pesticides in utero. Environ. Health Perspect. 2010, 118, 1775-1781.
49. Pasca, S. P., Dronca, E., Nemes, B., Kaucsar, T. et al., Paraoxonase 1 activities and polymorphisms in autism spectrum disorders. J. Cell Mol. Med. 2010, 14, 600-607.
50. Corbett, B. A., Kantor, A. B., Schulman, H., Walker, W. L. et al., A proteomic study of serum from children with autism showing differential expression of apolipoproteins and complement proteins. Mol. Psychiatry 2007, 12, 292-306.
51. Steeb, H., Ramsey, J. M., Guest, P. C., Stocki, P. et al., Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome. Mol. Autism 2014, 5, 4.
52. Momeni, N., Brudin, L., Behnia, F., Nordstrom, B. et al., High complement factor I activity in the plasma of children with autism spectrum disorders. Autism. Res. Treat. 2012. 2012, 868576.
53. Momeni, N., Bergquist, J., Brudin, L., Behnia, F. et al., A novel blood-based biomarker for detection of autism spectrum disorders. Transl. Psychiatry 2012, 2, e91.
54. Loo, J. A., Yan, W., Ramachandran, P., Wong, D. T., Comparative human salivary and plasma proteomes. J. Dent. Res. 2010, 89, 1016-1023.
55. Castagnola, M., Messana, I., Inzitari, R., Fanali, C. et al., Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders. J. Proteome Res. 2008, 7, 5327-5332.
56. Wetie, A. G., Dekroon, R. M., Mocanu, M., Ryan, J. P. et al., Mass spectrometry for the study of autism and neurodevelopmental disorders. Adv. Exp. Med. Biol. 2014. 806, 525-544.
57. Unlu, M., Morgan, M. E., Minden, J. S., Difference gel electrophoresis: a single gel method for detecting changes in protein extracts. Electrophoresis 1997, 18, 2071-2077.
58. Lilley, K. S., Razzaq, A., Dupree, P., Two-dimensional gel electrophoresis: recent advances in sample preparation, detection and quantitation. Curr. Opin. Chem. Biol. 2002, 6, 46-50.
59. Tonge, R., Shaw, J., Middleton, B., Rowlinson, R. et al., Validation and development of fluorescence two-dimensional differential gel electrophoresis proteomics technology. Proteomics 2001, 1, 377-396.
60. Schwarz, E., Guest, P. C., Rahmoune, H., Wang, L. et al., Sex-specific serum biomarker patterns in adults with Asperger's syndrome. Mol. Psychiatry 2011, 16, 1213-1220.
61. Lai, M. C., Lombardo, M. V., Suckling, J., Ruigrok, A. N. et al., Biological sex affects the neurobiology of autism. Brain 2013, 136, 2799-2815.
62. Ramsey, J. M., Guest, P. C., Broek, J. A., Glennon, J. C. et al., Identification of an age-dependent biomarker signature in children and adolescents with autism spectrum disorders. Mol. Autism 2013, 4, 27.
63. Wetie, A. G., Woods, A. G., Darie, C. C., Mass spectrometric analysis of post-translational modifications (PTMs) and protein-protein interactions (PPIs). Adv Exp. Med. Biol. 2014, 806, 205-235.
64. Ngounou Wetie, A. G., Sokolowska, I., Woods, A. G., Roy, U. et al., Protein-protein interactions: switch from classical methods to proteomics and bioinformatics-based approaches. Cell Mol. Life Sci. 2014, 71, 205-228.
65. Darie, C. C., Deinhardt, K., Zhang, G., Cardasis, H. S. et al., Identifying transient protein-protein interactions in EphB2 signaling by blue native PAGE and mass spectrometry. Proteomics 2011, 11, 4514-4528.
66. Ngounou Wetie, A. G., Sokolowska, I., Woods, A. G., Roy, U. et al., Investigation of stable and transient protein-protein interactions: past, present, and future. Proteomics 2013, 13, 538-557.
67. Emanuele, E., Colombo, R., Martinelli, V., Brondino, N. et al., Elevated urine levels of bufotenine in patients with autistic spectrum disorders and schizophrenia. Neuro. Endocrinol. Lett. 2010, 31, 117-121.
68. Kaluzna-Czaplinska, J., Michalska, M., Rynkowski, J., Determination of tryptophan in urine of autistic and healthy children by gas chromatography/mass spectrometry. Med. Sci. Monit. 2010, 16, CR488-CR492.
69. Lam, K. S., Aman, M. G., Arnold, L. E., Neurochemical correlates of autistic disorder: a review of the literature. Res. Dev. Disabil. 2006, 27, 254-289.
70. Pedersen, O. S., Liu, Y., Reichelt, K. L., Serotonin uptake stimulating peptide found in plasma of normal individuals and in some autistic urines. J. Pept. Res. 53, 641-646.
71. Sokolowska, I., Woods, A. G., Wagner, J., Dorler, J. et al., Mass spectrometry for proteomics-based investigation of oxidative stress and heat shock proteins, in: Andreescu, S., Hepel, M. (Eds.), Oxidative Stress: Diagnostics, Prevention, and Therapy. American Chemical Society, Washington, D.C. 2011.
72. Ghanizadeh, A., Akhondzadeh, S., Hormozi, M., Makarem, A. et al., Glutathione-related factors and oxidative stress in autism, a review. Curr. Med. Chem. 2012, 19, 4000-4005.
73. Yao, Y., Walsh, W. J., McGinnis, W. R., Pratico, D., Altered vascular phenotype in autism: correlation with oxidative stress. Arch. Neurol. 2006, 63, 1161-1164.
74. McCary, L. M., Roberts, J. E., Early identification of autism in fragile X syndrome: a review. J. Intellect. Disabil. Res. 2012, 57, 803-814.
75. Boyle, L., Kaufmann, W. E., The behavioral phenotype of FMR1 mutations. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C, 469-476.
76. Hagerman, R., Lauterborn, J., Au, J., Berry-Kravis, E., Fragile X syndrome and targeted treatment trials. Results Probl. Cell Differ. 2012, 54, 297-335.
77. McCary, L. M. and Roberts, J. E., Early identification of autism in fragile X syndrome: a review. J. Intellect. Disabil. Res. 2013, 57, 803-814.
78. Smith, L. E., Barker, E. T., Seltzer, M. M., Abbeduto, L., Greenberg, J. S., Behavioral phenotype of fragile X syndrome in adolescence and adulthood. Am. J. Intellect. Dev. Disabil. 2012, 117, 1-17.
79. Brown, W., The molecular biology of fragile X mutation, in: Hagerman, R., Hagerman, P. J., (Eds.), Fragile X Syndrome: Diagnosis, Treatment, and Research, Johns Hopkins University Press: Baltimore, MD 2002, pp. 110-135.
80. De Rubeis, S., Fernandez, E., Buzzi, A., Di Marino, D., Bagni, C., Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis. Adv. Exp. Med. Biol. 2012, 970, 517-551.
81. Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y. et al., Advances in the treatment of fragile X syndrome. Pediatrics 2009, 123, 378-390.
82. Berry-Kravis, E. M., Hessl, D., Rathmell, B., Zarevics, P. et al., Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci. Transl. Med. 2012, 4, 152ra127.
83. Dziembowska, M., Pretto, D. I., Janusz, A., Kaczmarek, L. et al., High MMP-9 activity levels in fragile X syndrome are lowered by minocycline. Am. J. Med. Genet. A 2013, 161A, 1897-1903.
84. Leigh, M. J., Nguyen, D. V., Mu, Y., Winarni, T. I. et al., A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J. Dev. Behav. Pediatr. 2013, 34, 147-155.
85. Jacquemont, S., Berry-Kravis, E., Hagerman, R., von Raison, F. et al., The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl) 2013, 231, 1237-1250.
86. Berry-Kravis, E., Hessl, D., Abbeduto, L., Reiss, A. L. et al., Outcome measures for clinical trials in fragile X syndrome. J. Dev. Behav. Pediatr. 2013, 34, 508-522.
87. Wormwood, K., Sokolowska, I., Ryan, J. P., Russell, S. et al., The potential for proteomics in understanding neurodevelopmental disorders. J. Proteomics Bioinform. 2013, S5.
88. Darie, C. C., Biniossek, M. L., Gawinowicz, M. A., Milgrom, Y. et al., Mass spectrometric evidence that proteolytic processing of rainbow trout egg vitelline envelope proteins takes place on the egg. J. Biol. Chem. 2005, 280, 37585-37598.
89. Klemmer, P., Meredith, R. M., Holmgren, C. D., Klychnikov, O. I. et al., Proteomics, ultrastructure, and physiology of hippocampal synapses in a fragile X syndrome mouse model reveal presynaptic phenotype. J. Biol. Chem. 2011, 286, 25495-25504.
90. Liao, L., Park, S. K., Xu, T., Vanderklish, P., Yates, J. R., 3rd, Quantitative proteomic analysis of primary neurons reveals diverse changes in synaptic protein content in fmr1 knockout mice. Proc. Natl. Acad. Sci. USA 2008, 105, 15281-15286.
91. Monzo, K., Dowd, S. R., Minden, J. S., Sisson, J. C., Proteomic analysis reveals CCT is a target of Fragile X mental retardation protein regulation in Drosophila. Dev. Biol. 2010, 340, 408-418.
92. Zhang, Y. Q., Friedman, D. B., Wang, Z., Woodruff, E., 3rd et al., Protein expression profiling of the drosophila fragile X mutant brain reveals up-regulation of monoamine synthesis. Mol. Cell. Proteomics 2005, 4, 278-290.
93. Zhang, Y. Q., Matthies, H. J., Mancuso, J., Andrews, H. K. et al., The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis. Dev. Biol. 2004, 270, 290-307.
94. Kaufmann, W. E., Cohen, S., Sun, H. T., Ho, G., Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets. Microsc. Res. Tech. 2002, 57, 135-144.
95. Godler, D. E., Slater, H. R., Bui, Q. M., Ono, M. et al., FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J. Mol. Diagn. 2011, 13, 528-536.
96. Godler, D. E., Slater, H. R., Bui, Q. M., Storey, E. et al., Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clin. Chem. 2012, 58, 590-598.
97. Aneja, A., Tierney, E., Autism: the role of cholesterol in treatment. Int. Rev. Psychiatry 2008, 20, 165-170.
98. Bukelis, I., Porter, F. D., Zimmerman, A. W., Tierney, E., Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am. J. Psychiatry 2007, 164, 1655-1661.
99. Diaz-Stransky, A., Tierney, E., Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 2012, 160C, 295-300.
100. Tierney, E., Bukelis, I., Thompson, R. E., Ahmed, K. et al., Abnormalities of cholesterol metabolism in autism spectrum disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006, 141B, 666-668.
101. DeBarber, A. E., Eroglu, Y., Merkens, L. S., Pappu, A. S., Steiner, R. D., Smith-Lemli-Opitz syndrome. Expert Rev. Mol. Med. 2011, 13, e24.
102. Fitzky, B. U., Moebius, F. F., Asaoka, H., Waage-Baudet, H. et al., 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J. Clin. Invest. 2001, 108, 905-915.
103. Corso, G., Gelzo, M., Barone, R., Clericuzio, S. et al., Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. Clin. Chem. Lab. Med. 2011, 49, 2039-2046.
104. Griffiths, W. J., Wang, Y., Karu, K., Samuel, E. et al., Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. Clin. Chem. 2008, 54, 1317-1324.
105. Meljon, A., Watson, G. L., Wang, Y., Shackleton, C. H., Griffiths, W. J., Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Delta3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. Biochem. Pharmacol. 2013, 86, 43-55.
106. Paglia, G., D'Apolito, O., Gelzo, M., Dello Russo, A., Corso, G., Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. Analyst 2010, 135, 789-796.
107. Patti, G. J., Shriver, L. P., Wassif, C. A., Woo, H. K. et al., Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. Neuroscience 2010, 170, 858-864.
108. Tu, C., Li, J., Jiang, X., Sheflin, L. G. et al., Ion current based proteomic profiling of the retina in a rat model of Smith-Lemli-Opitz syndrome. Mol. Cell Proteomics 2013, 12, 3583-3598.
109. Fliesler, S. J., Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. Adv. Exp. Med. Biol. 2010, 664, 481-489.
110. Anderson, G. M., Autism biomarkers: challenges, pitfalls and possibilities. J. Autism Dev. Disord. 2014.