Bioinformatics Publications (2008 and earlier)


  • Grosse SD, Ouyang L, Collins JS, Green D, Dean JH, Stevenson RE. Economic evaluation of a neural tube defect recurrence-prevention program. Am J Prev Med 2008; 35:572-577. (work highlighted by an accompanying editorial by Godfrey Oakley).
  • Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Fragile X syndrome detection in newborns - pilot study. Genet med 2008;10:714-719 (work highlighted on cover and by an accompanying commentary by Lainie Ross and Kruti Acharya).
  • Cho G, Bhat SS,4, Gao J, Collins JS, Rogers RC, Simensen RJ, Schwartz CE, Golden JA, Srivastava AK. Evidence that SIZN1 is a candidate X-linked mental retardation gene. Amer J Med genet A 2008;146A:2644-2650. PMCID: PMC2575800.
  • Boulet SL, Yang Q, Mai C, Kirby RS, Collins JS, Robbins JM, Meyer R, Canfield MA, Mulinare J. Trends in the post-fortification prevalence of spina bifida and anencephaly in the United States. Birth Defects Res A Clin Mol Teratol 2008;82:527-532.


  • Grosse S, Collins JS. Folic acid supplementation and neural tube defect recurrence prevention. Birth Defects Res (Part A) 2007;79:737-742.


  • Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, Devine O, Petrini JR, Ramadhani TA, Hibbs CA, Kirby RS. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol 2006; 76:747-756
  • Archie JG, Collins JS, Lebel RL. Quantitative standards for fetal and neonatal autopsy. Am J Clin Pathol 2006;126:256-265.
  • Bol K, Collins JS, Kirby R. Survival rates for infants with neural tube defects in the presence of folic acid fortification. Pediatrics 2006; 117:803-813.
  • Canfield MA, Ramadhani TA, Yuskiv N, Davidoff MJ, Petrini JR, Hobbs CA, Kirby RS, Romitti PA, Collins JS, Devine O, Honein MA, Mai CT, Edmonds LD, Correa A. Improved national prevalence estimates for 18 selected major birth defects - United States, 1999-2001. MMWR 2006;54:1301-1305 (reprinted in JAMA 2006;295:618-620).


  • Canfield MA, Collins JS, Botto LD, Williams LJ, Mai CT, Kirby RS, Pearson K, Mulinare J. Changes in the birth prevalence of selected birth defects after flour fortification with folic acid in the United States: findings from a multi-state population-based study. Birth Defects Res A Clin Mol Tertaol 2005;73:679-689.
  • Medina MT, Duron R, Martinez L, Osorio JR, Estrada AL, Zuniga C, Cartagena D, Collins JS, Holden KR. Prevalence, incidence, and etiology of all epilepsies in rural Honduras: the Salamá study. Epilepsia 2005;46(1):124-131.


  • Stevenson RE, Seaver LH, Collins JS, Dean JH. Neural tube defects and associated anomalies in South Carolina. Birth Defects Res A Clin Mol Teratol 2004;70:554-558.
  • Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK. POMGnT1 alterations ina  Caucasian family with congenital muscular dystrophy, glaucoma, and mental retardation. Ann Neurol 2004;56:143-148.


  • Stevenson RE, Procopio-Allen AM, Schroer RJ, Collins JS. Genetic syndromes among individuals with mental retardation. Am J Med Genet 2003;123A:29-32.
  • Allen AS, Collins JS, Rathouz PJ, Selander CL, Satten GA. Bootstrap calibration of TRANSMIT for informative missingness of parental genotype data. BMC Genet 2003;4 Suppl 1:S39. PMCID:PMC1866474.
  • Collins JS, Schroer RJ, Bird J, Michaelis RC. The HOXA1 A218G polymorphism and Autism: lack of association in white and black patients from the South Carolina Autism Project. J Aut Devel Disord 2003;33:343-348.


  • Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002;71:1251-1252. PMCID: PMC385117.
  • Holden KR, Collins JS, Greene JF, Hinkle S, Nave AF, Portillo JM. Page GP, Stevenson RE. Dietary intake and blood folate levels in Honduran women of childbearing age. J Child Neurol 2002;17:341-346.
  • Collins JS, Olson RL, Dupont BR, Wolff DJ, Best RG, Stevenson RE. Prevalence of aneuploidies in South Carolina in the 1990s. Genet Med 2002;4:131-135.
  • Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Cognitive function in Coffin-Lowry Syndrome. Clin Genet 2002;61:299-304.

Our Faculty & Staff


    Current/Recent Grant Standing

    Period: July 1, 2014 to June 30, 2017
    Self Regional Healthcare
    Principal Investigator:
    LJ Wang, Ph.D.
    Co-Principal Investigator:
    Anand Srivastava, Ph.D.
    "Genome-wide identification of autism associated long non-coding RNAs and circular RNAs"

    Period: July 1, 2014 to June 30, 2017
    Agency: Self Regional Healthcare
    Principal Investigator: Luigi Boccuto, M.D.
    Additional Investigators: Charles Schwartz, Ph.D., Chin-Fu Chen, Ph.D., Delphine Dean, Ph.D., Kevin Champaigne, Ph.D.
    "Investigation of aberrant tryptophan metabolism as a biochemical basis for autism spectrum disorders"

    Period: July 1, 2014 to June 30, 2017
    Agency: Self Regional Healthcare
    Principal Investigator: Anand Srivastava, Ph.D.
    Additional Investigators: Alka Chaubey, Ph.D., Tim Wood, Ph.D., Roger Stevesnon, M.D., Laura Pollard, Ph.D., LJ Wanf, Ph.D., Feng Luo, PhD.
    "Understanding contributions of transcriptome and metabolome to autism risk: Identification of long non-coding RNA (lncRNA) and metabolome biomarkers and therapeutic targets for ASDs"

    Type: Standard Grant #0960443
    July 1, 2010 to June 30, 2013
    Principal Investigator: Philip Yu, Ph.D.
    Co-Principal Investigator: Chin-Fu Chen, Ph.D.
    “G-SESAME Cloud: A Dynamically Scalable Collaboration Community for Biological Knowledge Discovery”
    The ultimate goal is to build a community-based scalable cloud computing infrastructure (G-SESAME Cloud) to help biological researchers disseminate their research results.

    Type: R01
    Period: April 1, 2011 to March 31, 2014
    Agency: NIH NINDS
    Principal Investigator: Charles E. Schwartz, Ph.D.
    Co-Principal Investigator: Chin-Fu Chen, Ph.D.
    "Identification of Novel X-linked Intellectual Disability Genes"