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Human chromosomes can have a few as 50 million base pairs to as many as 250 million base pairs.
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2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005
2011

Bidwell LC et al. A Family Based Association Study of DRD4, DAT1, and 5HTT and Continuous Traits of Attention-Deficit Hyperactivity Disorder. Behav Genet. 41:165-174 (2011).

Braet W et al. fMRI activation during response inhibition and error processing: The role of the DAT1 gene in typically developing adolescents and those diagnosed with ADHD. Neuropsychologia. Epub ahead of print. (2011).

Donenberg T et al. A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat. 125(2):591-596 (2011).

Filges I et al. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clin Genet. 79(1):79-85 (2011).

Furman DJ, Chen MC and Gotlib IH. Variant in oxytocin receptor gene is associated with amygdala volume. Psychoneuroendocrinology. Epub ahead of print. (2011).

Guevara-Aguirre J et al. Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans. Sci Transl Med. 3(70):70ra13 (2011).

Lau K et al. Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment. Clin Chim Acta. Epub ahead of print. (2011).

Lehmann AS et al. Collection of human genomic DNA from neonates: a comparison between umbilical cord blood and buccal swabs. Am J Obstet Gynecol. Epub ahead of print. (2011).

Licis et al. Novel genetic findings in an extended family pedigree with sleepwalking. Neurology. 76:49–52 (2011).

Mancuso R et al. Intrafamiliar Transmission of KSHV and Seronegative Infection in Family Members of Classic Kaposi's Sarcoma Patients. J Gen Virol. Epub ahead of print. (2011).

Palejev D et al. An Application of the Elastic Net for an Endophenotype Analysis. Behav Genet. 41:120–124 (2011).

Pansuriya TC et al. Genome-wide analysis of Ollier disease: Is it all in the genes. Orphanet J Rare Dis. 6:2 (2011).

Parkman HP et al. Domperidone Treatment for Gastroparesis: Demographic and Pharmacogenetic Characterization of Clinical Efficacy and Side-Effects. Dig Dis Sci. 56:115-124 (2011).

Rossnerova A et al. Factors affecting the frequency of micronuclei in asthmatic and healthy children from Ostrava. Mutat Res. Epub ahead of print. (2011).

Saad M et al. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet. 20(3):615-627 (2011).

Sharma S et al. Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Hum Mol Genet. Epub ahead of print. (2011).

Szperl AM et al. Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease. J Pediatr Gastroenterol Nutr. 52(3):307-313 (2011).

2010

Acevedo SF et al. Apolipoprotein E4 and Sex Affect Neurobehavioral Performance in Primary School Children. Pediatr Res. 67(3):293-299 (2010).

Aldave AJ et al. Linkage of Posterior Amorphous Corneal Dystrophy to Chromosome 12q21.33 and Exclusion of Coding Region Mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci. 51(8):4006-4012 (2010).

Antypa A and Van der Does AJW. Serotonin transporter gene, childhood emotional abuse and cognitive vulnerability to depression. Genes Brain Behav. 9:615-620 (2010).

Armbruster D et al. Influence of functional tryptophan hydroxylase 2 gene variation and sex on the startle response in children, young adults, and older adults. Biol Psychiatry. 83:214-221 (2010).

Arrington CB et al. Haploinsufficiency of the LIM Domain Containing Preferred Translocation Partner in Lipoma (LPP) Gene in Patients With Tetralogy of Fallot and VACTERL Association. Am J Med Genet A. 152A:2919–2923 (2010).

Bahlo M et al. Saliva-Derived DNA Performs Well in Large-Scale, High-Density Single-Nucleotide Polymorphism Microarray Studies. Cancer Epidemiol Biomarkers Prev. 19(3):794-798 (2010).

Beall CM et al. Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci USA. 107(25):11459-11464 (2010).

Benedek G et al. Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel. Genes Immun. 11:423-31 (2010).

Benjet C, Thompson RJ and Gotlib IH. 5-HTTLPR Moderates the Effect of Relational Peer Victimization on Depressive Symptoms in Adolescent Girls. J Child Psychol Psychiatry. 51(2):173-179 (2010).

Bernard G et al. Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31. Neurogenetics. 11:457–464 (2010).

Bismark AW et al. Polymorphisms of the HTR1a allele are linked to frontal brain electrical asymmetry. Biol Psychol. 83:153-158 (2010).

Blanton SH et al. Ethnic Heterogeneity of IRF6 AP-2a Binding Site Promoter SNP Association With Nonsyndromic Cleft Lip and Palate. Cleft Palate Craniofac J. 47(6):574-577 (2010).

Blanton SH et al. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol. 88(4):256-259 (2010).

Brocke B et al. Stathmin, a Gene Regulating Neural Plasticity, Affects Fear and Anxiety Processing in Humans. Am J Med Genet B. 153B:243-251 (2010).

Bryant RA et al. Preliminary Evidence of the Short Allele of the Serotonin Transporter Gene Predicting Poor Response to Cognitive Behavior Therapy in Posttraumatic Stress Disorder. Biol Psychiatry. 67:1217–1219 (2010).

Carvalho FM et al. FAM5C Contributes to Aggressive Periodontitis. PLoS One. 5(4):e10053 (2010).

Chen J et al. Optimization of Zygosity Determination by Questionnaire and DNA Genotyping in Chinese Adolescent Twins. Twin Res Hum Genet. 13(2):194-200 (2010).

Chien W et al. Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan. Prog Neuropsychopharmacol Biol Psychiatry. 34:189-192 (2010).

Cohn AC et al. Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations. Eye. 25(2):208-217 (2010).

Colzato LS et al. The flexible mind is associated with the catechol-O-methyltransferase (COMT) Val158Met polymorphism: Evidence for a role of dopamine in the control of task-switching. Neuropsychologia. 48(9):2764–2768 (2010).

Colzato LS, Pratt J and Hommel B. Dopaminergic control of attentional flexibility: inhibition of return is associated with the dopamine transporter gene (DAT1). Front Hum Neurosci. 4:53 (2010).

Corominas R et al. Association Study of the Serotoninergic System in Migraine in the Spanish Population. Am J Med Genet B. 153B:177–184 (2010).

Cruciani F et al. Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152. Forensic Sci Int Genet. Epub ahead of print. (2010).

Cunningham VJ et al. Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Bone. 47(3):591-597 (2010).

de Visser L et al. Trait anxiety affects decision-making differently in healthy men and women: Towards gender-specific endophenotypes of anxiety. Neuropsychologia. 48(6):1598-1606 (2010).

Dillon DG et al. Variation in TREK1 Gene Linked to Depression-Resistant Phenotype is Associated with Potentiated Neural Responses to Rewards in Humans. Hum Brain Mapp. 31(2):210-221 (2010).

Dmitrieva J et al. Gender-specific expression of the DRD4 gene on adolescent delinquency, anger and thrill seeking. Soc Cogn Affect Neurosci. 6(1):82-89 (2010).

Dupont WD et al. Protein Phosphatase 2A Subunit Gene Haplotypes and Proliferative Breast Disease Modify Breast Cancer Risk. Cancer. 116(1):8-19 (2010).

Edwards AC et al. MAOA-uVNTR and early physical discipline interact to influence delinquent behavior. J Child Psychol Psychiatry. 51(6):679-687 (2010).

Ells A et al. Severe retinopathy of prematurity associated with FZD4 mutations. Ophthalmic Genet. 31(1):37-43 (2010).

Epstein LH, Dearing KK and Erbe RW. Parent–child concordance of Taq1 A1 allele predicts similarity of parent–child weight loss in behavioral family-based treatment programs. Appetite. 55(2):363-366 (2010).

Fajans SS et al. Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. Transl Res. 156(1):7-14 (2010).

Fang F et al. Association Between Blood Lead and the Risk of Amyotrophic Lateral Sclerosis. Am J Epidemiol. 171(10):1126-1133 (2010).

Feigl B et al. Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision. Invest Ophthalmol Vis Sci. Epub ahead of print. (2010).

Fesenko DO et al. HLA-DQA1, AB0, and AMEL Genotyping of Biological Material with Biochips. Mol Biol. 44(3):401-406 (2010).

Franke B et al. Genetic Variation in CACNA1C, a Gene Associated with Bipolar Disorder, Influences Brainstem Rather than Gray Matter Volume in Healthy Individuals. Biol Psychiatry. 68(6):586-588 (2010).

Frazier-Bowers SA et al. Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofacial Orthop. 137(2):160.e1-160.e7 (2010).

Furman DJ et al. Altered timing of amygdala activation during sad mood elaboration as a function of 5-HTTLPR. Soc Cogn Affect Neurosci. Epub ahead of print. (2010).

Gale DP et al. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet. 376(9743):794-801 (2010).

Girard N et al. Analysis of Genetic Variants in Never-Smokers with Lung Cancer Facilitated by an Internet-Based Blood Collection Protocol: A Preliminary Report. Clin Cancer Res. 16(2):755-763 (2010).

Golledge J et al. A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm. Eur J Hum Genet. 19(3):363-366 (2010).

Gra OA et al. Analysis of Genetic Predisposition to Pulmonary Tuberculosis in Native Russians. Genetika. 46(2):262-271 (2010).

Greene CM et al. Dopaminergic genotype influences spatial bias in healthy adults. Neuropsychologia. 48(9):2458-2464 (2010).

Gurnett CA et al. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Gen. 19(7):1165-1173 (2010).

Harmsze AM et al. CYP2C19*2 and CYP2C9*3 alleles are associated with stent thrombosis: a case–control study. Eur Heart J. 31(24):3046-3053 (2010).

Heim C et al. Effect of childhood trauma on adult depression and neuroendocrine function: sex-specific moderation by CRH receptor 1 gene. Front Behav Neurosci. 3:41 (2010).

Hennis PJ et al. The Lack of Associations Between Alleles at the Hypoxia-Inducible Factor 1A C1772T Loci and Responses to Acute Hypoxia. Wilderness Environ Med. 21(3):219-228 (2010).

Holmes AJ Bogdan R and Pizzagalli DA.. Serotonin Transporter Genotype and Action Monitoring Dysfunction: A Possible Substrate Underlying Increased Vulnerability to Depression. Neuropsychopharmacology. 35(5):1186-1197 (2010).

Hradsky O et al. The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. BMC Med Genet. 11:91 (2010).

Jacobs RH et al. Maternal depressive history, teen 5HTTLPR genotype, and the processing of emotional faces: Exploring mechanisms of risk. Behav Res Ther. 49(1):80-84 (2010).

Johansson S et al. Common Q1 Variants in the TPH1 and TPH2 Regions Are Not Associated With Persistent ADHD in a Combined Sample of 1,636 Adult Cases and 1,923 Controls From Four European Populations. Am J Med Genet B. 153B(5):1008-1015 (2010).

Jordan G et al. The dimensionality of color vision in carriers of anomalous trichromacy. J Vis. 10(8):12 (2010).

Juárez-Cedillo T et al. Cost-effective analysis of genotyping using oral cells in the geriatric population. Genet Mol Res. 9(3):1886-1895 (2010).

Katerberg H et al. The Role of the COMT Val158Met Polymorphism in the Phenotypic Expression of Obsessive-Compulsive Disorder. Am J Med Genet B. 153B(1):167-176 (2010).

Keller KL et al. Sex Differences in the Effects of Inherited Bitter Thiourea Sensitivity on Body Weight in 4–6-Year-Old Children. Obesity (Silver Spring). 18(6):1194-1200 (2010).

Kennerson ML et al. Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy. Am J Hum Genet. 86(3):343-352 (2010).

Khor CC et al. Hepatocyte Growth Factor and Retinal Arteriolar Diameter in Singapore Chinese. Ophthalmology. 117(5):939-945 (2010).

Kim HS et al. Culture, distress, and oxytocin receptor polymorphism (OXTR) interact to influence emotional support seeking. Proc Natl Acad Sci USA. 107(36):15717-15721 (2010).

Kolassa I et al. The Risk of Posttraumatic Stress Disorder After Trauma Depends on Traumatic Load and the Catechol-O-Methyltransferase Val158Met Polymorphism. Biol Psychiatry. 67(4):304-308 (2010).

Kripke DF et al. Genotyping Sleep Disorders Patients. Psychiatry Investig. 7(1):36-42 (2010).
Ladouceur M et al. An Efficient Paradigm for Genetic Epidemiology Cohort Creation. PLoS One. 5(11):e14045 (2010).

Landa I et al. Allelic variant at K79 (COT) in CDKN1B (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels. Endocr-Relat Cancer. 17:317–328 (2010).

Landaas ET et al. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes Brain Behav. 9:449–458 (2010).

Lavebratt C et al. PER2 Variantion Is Associated With Depression Vulnerability. Am J Med Genet B. 153B:570–581 (2010).

Leskela S et al. Polymorphisms in cytochromes P450 2C8 and 3A5 are associated with paclitaxel neurotoxicity. Pharmacogenomics J. :1-9 (2010).

Li X et al. Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions. J Allergy Clin Immunol. 125:328-335 (2010).

Lopate G et al. Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. Amyotroph Lateral Sc. 11:232-236 (2010).

Martin IT et al. Guide for Investigators Conducting International Cancer Research Involving Developing Nations. Cancer. 116(6):1396-1399 (2010).

Martínez ME et al. Comparative study of breast cancer in Mexican and Mexican-American women. Health. 2(9):1040-1048 (2010).

Mata J, Thompson RJ and Gotlib IH. BDNF Genotype Moderates the Relation Between Physical Activity and Depressive Symptoms. Health Psychol. 29(2):130–133 (2010).

Mather KA et al. No Associations Between Telomere Length and Age-Sensitive Indicators of Physical Function in Mid and Later Life. J Gerontol A Biol Sci Med Sci. 65(8):792–799 (2010).

McElroy JA et al. Genetic Variation at a Metallothionein 2A Promoter Single-Nucleotide Polymorphism in White and Black Females in Midwestern United States. J Toxicol Env Heal A. 73(19):1283-1287 (2010).

McGregor TL et al. Consanguinity Mapping of Congenital Heart Disease in a South Indian Population. PLoS One. 5(4):e10286 (2010).

Metcalfe KA et al. Screening for Founder Mutations in BRCA1 and BRCA2 in Unselected Jewish Women. J Clin Oncol. 28(3):387-391 (2010).

Morgan JE et al. Genetic Diagnosis of Familial Breast Cancer Using Clonal Sequencing. Hum Mutat. 31(4):484–491 (2010).

Ness KK et al. Characteristics of Responders to a Request for a Buccal Cell Specimen Among Survivors of Childhood Cancer and Their Sibling. Pediatr Blood Cancer. 55:165–170 (2010).

O'Byrne MR et al. Association of Folate Receptor (FOLR1, FOLR2, FOLR3) and Reduced Folate Carrier (SLC19A1) Genes with Meningomyelocele. Birth Defects Res A. 88:689-694 (2010).

Ozturk A, Famili P and Vieira AR. The Antimicrobial Peptide DEFB1 Is Associated with Caries. J Dent Res. 89(6):631-636 (2010).

Park J et al. Evidence that genetic variation in the oxytocin receptor (OXTR) gene influences social cognition in ADHD. Prog Neuro-Psychoph. 34:697–702 (2010).

Park J et al. Evidence that genetic variation in the oxytocin receptor (OXTR) gene influences social cognition in ADHD. Prog Neuro-Psychoph. 34(4):697-702 (2010).

Peplies J et al. Quality management for the collection of biological samples in multicentre studies. Eur J Epidemiol. 25:607–617 (2010).

Perez-Edgar K et al. Variations in the serotonin-transporter gene are associated with attention bias patterns to positive and negative emotion faces. Biol Psychol. 83:269–271 (2010).

Peters BJM et al. Variants of ADAMTS1 modify the effectiveness of statins in reducing the risk of myocardial infarction. Pharmacogenet Genom. 20:766–774 (2010).

Rankin JK et al. HOXA1 mutations are not a common cause of Möbius syndrome. J AAPOS. 14(1):78–80 (2010).

Ressler KJ. Polymorphisms in CRHR1 and the Serotonin Transporter Loci: Gene X Gene X Environment Interactions on Depressive Symptoms. Am J Med Genet B. 153B:812–824 (2010).

Rethorst CD et al. The association of 5-HTTLPR genotype and depressive symptoms is moderated by physical activity. J Psychiat Res. 45(2):189-199 (2010).

Ribases M et al. Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study. Genes Brain Behav. 10(2):49-157 (2010).

Rodriguez-Paris J et al. Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice. PLoS One. 5(7):e11804 (2010).

Rojas O-L et al. HLA class II polymorphism in Latin American patients with multiple sclerosis. Autoimmun Rev. 9:407–413 (2010).

Saad M et al. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet. 20(3):615-627 (2010).

Sagreiya H et al. Extending and evaluating a warfarin dosing algorithm that includes CYP4F2 and pooled rare variants of CYP2C9. Pharmacogenet Genom. 20(7):407-413 (2010).

Sanchez-Mora C et al. Meta-Analysis of Brain-Derived Neurotrophic Factor p.Val66Met in Adult ADHD in Four European Populations. Am J Med Genet B. 153B:512–523 (2010).

Santtila P et al. The Dopamine Transporter Gene (DAT1) Polymorphism is Associated with Premature Ejaculation. J Sex Med. 7:1538–1546 (2010).

Schelleman H et al. New genetic variant that might improve warfarin dose prediction in African Americans. Br J Clin Pharmacol. 70(3):393–399 (2010).

Schmidt S et al. Association of ALS with head injury, cigarette smoking and APOE genotypes. J Neurol Sci. 291:22–29 (2010).

Sebastian CL et al. Effects of age and MAOA genotype on the neural processing of social rejection. Genes Brain Behav. 9(6):628–637 (2010).

Sen S et al. A Prospective Cohort Study Investigating Factors Associated With Depression During Medical Internship. Arch Gen Psychiatry. 67(6):557-565 (2010).

Simon JR et al. Dopamine transporter genotype predicts implicit sequence learning. Behav Brain Res. 216:452–457 (2010).

Small BJ et al. Catechol-O-Methyltransferase Genotype Modulates Cancer Treatment-Related Cognitive Deficits in Breast Cancer Survivors. Cancer. Epub ahead of print. (2010).

Stice E et al. Reward circuitry responsivity to food predicts future increases in body mass: Moderating effects of DRD2 and DRD4. NeuroImage. 50:1618–1625 (2010).

Stollstorff M et al. Neural response to working memory load varies by dopamine transporter genotype in children. NeuroImage. 53:970–977 (2010).

Teeuw ME et al. Do cosanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet. 11(113):1-5 (2010).

Thomason ME et al. Neural and behavioral responses to threatening emotion faces in children as a function of the short allele of the serotonin transporter gene. Biol Psychol. 85(1):38-44 (2010).

Thomason ME et al. COMT genotype affects prefrontal white matter pathways in children and adolescents. NeuroImage. 53:926–934 (2010).

Thomis MA et al. Genome-wide linkage scan for resistance to muscle fatigue. Scand J Med Sci Sports. Epub ahead of print. (2010).

Tsianos GI et al. Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. J Appl Physiol. 108:567–574 (2010).

van der Mei IAF et al. Human Leukocyte Antigen-DR15, Low Infant Sibling Exposure and Multiple Sclerosis: Gene–Environment Interaction. Ann Neurol. 67:259-263 (2010).

van der Zanden LFM et al. Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 Really Associated with the Malformation?. J Clin Endocrinol Metab. 95(5):2384–2390 (2010).

van Wingen G et al. The brain-derived neurotrophic factor Val66Met polymorphism affects memory formation and retrieval of biologically salient stimuli. NeuroImage. 50:1212–1218 (2010).

Viltrop T et al. Comparison of DNA extraction methods for multiplex polymerase chain reaction. Anal Biochem. 398:260–262 (2010).

Voisey J et al. A polymorphism in the dysbindin gene (DTNBP1) associated with multiple psychiatric disorders including schizophrenia. Behav Brain Funct. 6(41):1-7 (2010).

Way BM and Taylor SE. The Serotonin Transporter Promoter Polymorphism Is Associated with Cortisol Response to Psychosocial Stress. Biol Psychiatry. 67:487–492 (2010).
Wendell S et al. Taste Genes Associated with Dental Caries. J Dent Res. 89(11):1198-1202 (2010).

Wessel J et al. Resequencing of Nicotinic Acetylcholine Receptor Genes and Association of Common and Rare Variants with the Fagerstrom Test for Nicotine Dependence. Neuropsychopharmacol. 35:2392-2402 (2010).

Windelinckx A et al. Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene. Eur J Hum Genet. 19:208-215 (2010).

Xiao J et al. Novel THAP1 sequence variants in primary dystonia. Neurology. 74:229–238 (2010).

Yokoyama JS, Erdman CA and Hamilton SP. Array-Based Whole-Genome Survey of Dog Saliva DNA Yields High Quality SNP Data. PLoS One. 5(5):e10809 (2010).

2009
Ambrosone, C. B. et al. Conducting Molecular Epidemiological Research in the Age of HIPAA: AMulti-Institutional Case-Control Study of Breast Cancer in African-American and European-AmericanWomen. Journal of Oncology 2009(871250): (2009).
Asher, J. E. et al. A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12. The American Journal of Human Genetics 84: 279 – 285 (2009).
Bar-Shira, A. et al. Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries. Neurogenetics 10: 355 – 358 (2009).
Barcellos, L. F. et al. High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions. PLoS Genetics 5(10): 1 – 10 (2009).
Basham, R. J. et al. Effect of HIV-1 Infection on Human DNA Yield from Saliva. HIV Clin Trials 10(4): 282 – 285 (2009).
Becerik, S. et al. Exclusion of Candidate Genes in Seven Turkish Families with Autosomal Recessive Amelogenesis Imperfecta. Am J Med Genet Part A 149A:1392 – 1398 (2009).
Bennett, R. R et al. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genetics: 10 – 66 (2009).
Boles, R. G. Et al. Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVSassociated common mtDNA polymorphisms 16519T and 3010A. Neurogastroenterol Motil 21: 936 – e72 (2009).
Bossé, Y. et al. IdentiWcation of susceptibility genes for complex diseases using pooling-based genome-wide association scans. Hum Genet 125: 305 – 318 (2009).
Brocke, B. et al. Stathmin, a Gene Regulating Neural Plasticity, Affects Fear and Anxiety Processing in Humans. Am J Med Genet Part B 153B: 243 – 251 (2009).
Brocki K, et al., Assessing the Molecular Genetics of the Development of Executive Attention in Children: Focus on Genetic Pathways Related to the Anterior Cingulate Cortex and Dopamine. Neuroscience (2009).
Brody, G. H. et al. Participation in a Family-Centered Prevention Program Decreases Genetic Risk for Adolescents' Risky Behaviors. Pediatrics 124: 911 – 917 (2009).
Carroll, C. L. et al. ß2-Adrenergic Receptor Polymorphisms With Severe Asthma Exacerbations Affect Response to Treatment in Children. Chest 135: 1186 – 1192 (2009).
Castano, R. et al. Evidence of association of interleukin-1 receptor-like 1 gene polymorphisms with chronic rhinosinusitis. American Journal of Rhinology & Allergy 23(4): 377 – 384 (2009).
Chiang, P. W. et al. Somatic and Germ-Line Mosaicism in Rubinstein–Taybi Syndrome. Am J Med Genet Part A 149A:1463 – 1467 (2009).
Chakkera, H.A. et al. Pilot Study: Association of Traditional and Genetic Risk Factors and New-Onset Diabetes Mellitus Following Kidney Transplantation. Transplantation Proceedings 41: 4172 – 4177 (2009).
Greene, C. M. et al. Noradrenergic genotype predicts lapses in sustained attention. Neuropsychologia 47: 591 – 594 (2009).
Corre, T. et al. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. Human Reproduction 24(8): 2023 – 2028 (2009).
Dick, D. M. et al. Role of GABRA2 in Trajectories of Externalizing Behavior Across Development and Evidence of Moderation by Parental Monitoring. Arch Gen Psychiatry 66(6): 649 – 657 (2009).
Dickinson, J. L. et al. Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction. Multiple Sclerosis 15: 563 – 570 (2009).
Dieterich, K. et al. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Human Molecular Genetics 18(7): 1301 – 1309 (2009).
Dillon, D. G. et al. Variation in TREK1 Gene Linked to Depression-Resistant Phenotype is Associated with Potentiated Neural Responses to Rewards in Humans. Human Brain Mapping: (2009).
Dusatkova, P. et al. Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population. Journal of Pediatric Gastroenterology and Nutrition 49: 405 – 410 (2009).
El-Sayed, W. et al. Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta. The American Journal of Human Genetics 85: 699 – 705 (2009).
Endam, L. M. et al. Polymorphisms in the interleukin-22 receptor alpha-1 gene are associated with severe chronic rhinosinusitis. Otolaryngology–Head and Neck Surgery 140: 741 – 747 (2009).
Faruque, M. U. et al. Association of GNB3 C825T Polymorphism with Peak Oxygen Consumption. Association of GNB3 C825T …Int J Sports Med 30: 315 – 319 (2009).
Frank, M. J. et al. Prefrontal and striatal dopaminergic genes predict individual differences in exploration and exploitation. Nature Neuroscience 12(8): 1062 – 1068 (2009).
Frazier-Bowers, S. et al. Evidence of Linkage in a Hispanic Cohort with a Class III Dentofacial Phenotype. J Dent Res 88(1): 56 – 60 (2009).
Gadji, M. et al. Is the 1p/19q deletion a diagnostic marker of oligodendrogliomas? Cancer Genetics and Cytogenetics 194: 12 – 22 (2009).
Gurnett, C. A. et al. Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to Chromosome 18 q. SPINE 34(2): E94 – E100 (2009).
Grosjean, J. et al. Direct genotyping of cytomegalovirus envelope glycoproteins from toddler's saliva samples. J Clin Virol (2009).
Harbuz, R. et al. Rôle d'aurora kinase C (AURKC) dans la reproduction humaine. Gynécologie Obstétrique & Fertilité 37: 546 – 551(2009).
Isosomppi, J. et al. Disease-causing mutations in the CLRN1 gene alter normal CLRN1protein trafficking to the plasma membrane. Molecular Vision 15:1806 – 1818 (2009).
Kim, H. S. et al. Culture, serotonin receptor polymorphism and locus of attention. The Author: (2009).
Kolassa, I. et al. The Risk of Posttraumatic Stress Disorder After Trauma Depends on Traumatic Load and the Catechol-O-Methyltransferase Val158Met Polymorphism. Biol Psychiatry: (2009).
Krynetskiy, E. et al. Introducing Pharmacy Students to Pharmacogenomic Analysis. American Journal of Pharmaceutical Education 73(4): (2009).
Landa, I. et al. The Variant rs1867277 in FOXE1 Gene Confers Thyroid Cancer Susceptibility through the Recruitment of USF1/USF2 Transcription Factors. PLoS Genetics 5(9): (2009).
Leger, P. et al. CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti. J Infect Dis. 200(6): 955 – 964 (2009).
Lim, K. S. et al. Determination of DNA Mutation Load in Human Tissues Using Denaturing HPLC-Based Heteroduplex Analysis. Methods Mol Biol 554: 287 – 299 (2009).
Mackey, D. A. et al. Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins. Twin Research and Human Genetics 12(5): 441 – 454 (2009).
Madadi, P. et al. Pharmacogenetics of Neonatal Opioid Toxicity Following Maternal Use of Codeine During Breastfeeding: A Case–Control Study. Clinical pharmacology & Therapeutics 85(1): 31 – 35 (2009).
Martinez, C. A. et al. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol 201:394.e1 – 394.e11 (2009).
Medeiros-Domingo, A. et al. Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome. J Am Coll Cardiol: 54(22): 2065 – 2074 (2009).
Mitsouras, K. et al. Saliva as an alternative source of high yield canine genomic DNA for genotyping studies. BMC Research Note 2(219): (2009).
Mohamed, J. A. et al. A Single-Nucleotide Polymorphism in the Gene Encoding Osteoprotegerin, an Anti-inflammatory Protein Produced in Response to Infection with Diarrheagenic Escherichia coli, Is Associated with an Increased Risk of Nonsecretory Bacterial Diarrhea in North American Travelers to Mexico. The Journal of Infectious Diseases 199: 477 – 485 (2009).
Nishita, D. M. et al. Clinical trial participant characteristics and saliva and DNA metrics. BMC Medical Research Methodology 9(71): (2009).
Nelson, S. S. et al. The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition. Nature Precedings: (2009).
Racine, S. E. et al. The possible influence of impulsivity and dietary restraint on associations between serotonin genes and binge eating. Journal of Psychiatric Research 43: 1278 – 1286 (2009).
Ribasés, M. et al. Case-Control Study of Six Genes Asymmetrically Expressed in the Two Cerebral Hemispheres: Association of BAIAP2 with Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry: (2009).
Rodrigues, S. M. et al. Oxytocin receptor genetic variation relates to empathy and stress reactivity in humans. PNAS Early Edition: (2009).
Roe, B. E. et al. Risk-attitude selection bias in subject pools for experiments involving neuroimaging and blood samples. Journal of Economic Psychology 30: 181 – 189 (2009).
Rylander-Rudqvist, T. et al. Quality and Quantity of Saliva DNA Obtained from the Self-administrated Oragene Method–A Pilot Study on the Cohort of Swedish Men. Cancer Epidemiol Biomarkers15 (9): 1742 – 1745 (2006).
Santiago-Sim, T. et al. Sequencing of TGF-{beta} Pathway Genes in Familial Cases of Intracranial Aneurysm. Stroke; Journal of the American Heart Association 40: 1604 – 1611 (2009).
Schacht, J. P. et al. Intermediate cannabis dependence phenotypes and the FAAH C385A variant: an exploratory analysis. Psychopharmacology 203: 511 – 517 (2009).
Sjöholm, L. K. et al. PreproNPY Pro7 protects against depression despite exposure to environmental risk factors. Journal of Affective Disorders 118: 124 – 130 (2009).
Szczepankiewicz, A. et al. Association of A/T polymorphism of the CHRM2 gene with bronchodilator response to ipratropium bromide in asthmatic children. Pneumonologia i Alergologia Polska 77(1): 5 – 10 (2009).
Theusch, E. et al. Genome-wide Study of Families with Absolute Pitch Reveals Linkage to 8q24.21 and Locus Heterogeneity. The American Journal of Human Genetics 85: 112 – 119 (2009).
Thomason, M. E. et al. BDNF genotype modulates resting functional connectivity in children. Frontiers in Human Neuroscience 3(55): 1 – 10 (2009).
Tischfield, Max A. et al. Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance. Cell 140: 74 – 87 (2009).
Toccaceli, V. et al. La Banca Biologica Del Registro Nazionale Gemelli. Not Ist Super Sanità 22(3): 3 – 7 (2009).
Trynka, G. et al. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-KB signalling. Gut 58: 1078 – 1083 (2009).
van de Kant, K. DG et al. Early diagnosis of asthma in young children by using non-invasive biomarkers of airway inflammation and early lung function measurements: study protocol of a case-control study. BMC Public Health 9(210): (2009).
van der Zwaluw, C. S . et al. Interaction between dopamine D2 receptor genotype and parental rule-setting in adolescent alcohol use: evidence for a gene-parenting interaction. Molecular Psychiatry: 1 – 9 (2009).
Viltrop, T. et al. Comparison of DNA extraction methods for multiplex PCR. Analytical Biochemistry: (2009).
Vincent, A. L. et al. Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. Molecular Vision 15:1700 – 1708 (2009).
Waugh, C. E. et al. Association Between the Catechol-O-Methyltransferase Val158Met Polymorphism and Self-Perceived Social Acceptance in Adolescent Girls. Journal of Child and Adolescent Psychopharmacology 19(4): 395 – 401 (2009).
Wendland, J. R. et al. A Haplotype Containing Quantitative Trait Loci for SLC1A1 Gene Expression and Its Association with Obsessive-Compulsive Disorder. ARCH GEN PSYCHIATRY 66(4): 408 – 416 (2009).
Wiener, H. W. Et al. Linkage analysis of schizophrenia in African-American families. Schizophrenia Research 109: 70 – 79 (2009).
Wilson, M. L. et al. Maternal and fetal variants in the TGF-beta3 gene and risk of pregnancy-induced hypertension in a predominantly Latino population. Am J Obstet Gynecol 201: 295.e1 – 295.e5 (2009).
Wright, J. T. et al. Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta. J Dent Res 88(4): 356 – 360 (2009).
Zhang, L. et al. A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing. Journal of Molecular Diagnostics 11(3): 176 – 181 (2009).
2008
de Quervain, D.J. et al. A deletion variant of the alpha2b-adrenoceptor is related to emotional memory in Europeans and Africans. Nat Neurosci. 10(9): 1137-9 (2008).
Graham, E.A.M. et al. Room temperature DNA preservation of soft tissue for rapid DNA extraction: an addition to the disaster victim identification investigators toolkit? Forensic Sciences Int Genetics 2(1): 29-34 (2008).
Laios, E & Glynou K. et al. Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia. Clin Biochem. 41(1-2): 38-40 (2008).
Gotlib, I. H. et al. HPA axis reactivity: A mechanism underlying the associations among 5-HTTLPR, stress, and depression. Bio Psychiatry 63(9): 847-51 (2008).
Alexis, S. et al. Sexual Function in Women with Turner Syndrome. J Women's Health. 17(1): 27-33 (2008).
Davidson, C. et al. Genes in Glucose Metabolism and Association w/ Spina Bifida. Reprod Sci. 15: 51-58 (2008).
Burt, A. et al. Genes and Popularity: Evidence of an Evocative Gene-Environment Correlation. Psychol Sci. 19(2): 112-113 (2008).
Everett, K. et al. Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23. Am J Hum Genet, 82(3): 756-762 (2008).
Binder, E. B. et al. Association of FKBP5 Polymorphisms and Childhood Abuse with Risk of Posttraumatic Stress Disorder Symptoms in Adults. JAMA, 299(11): 1291-1305 (2008).
2007
Kimberling, J.W., et. al. Genetic Screening of Usher Syndrome in Children . ASHG abstract (2007).
Hansen, T.V. et. al. Collection of blood, saliva, and buccal cell samples in a pilot study on the danish nurse cohort: comparison of the response rate and quality of genomic DNA. Cancer Epidemiol Biomarkers Prev. Oct;16(10):2072-6 (2007).
Hannelius, U. et. al.  Large-scale zygosity testing using single nucleotide polymorphisms. Twin Res Hum Genet. Aug;10(4):604-25 (2007).
Cardy, J. O. el. al. Screening for dup7q11.23 in children with expressive language delay. Source: ASHG abstract (2007).
Daksis,J.I. et. al. Heteropolymeric triplex-based genomic assay(r) to detect pathogens or single-nucleotide polymorphisms in human genomic samples. PLoS ONE, 2, e305. Notes: Ingeneus Research, Mississauga, Ontario, Canada (2007).
de Quervain DJ, et. al. Nat Neurosci.A deletion variant of the alpha2b-adrenoceptor is related to emotional memory in Europeans and Africans.;10(9):1137-9. (2007).
Duvefelt, K. el. al.  Zygosity determination using DNA prepared from saliva. Karolinska University Hospital and Karolinska Insitutet. ASHG abstract (2007).
Infante-Rivard,C., et. al. Excess Transmission of the NAD(P)H:Quinone Oxidoreductase 1 (NQO1) C609T Polymorphism in Families of Children with Acute Lymphoblastic Leukemia. Am. J. Epidemiol. 165(11):1248-54 (2007) 
Jin,Y., et. al. NALP1 in vitiligo-associated multiple autoimmune disease. N. Engl. J. Med., 356, 1216-1225. (2007). 
Ng, D.P., et. al. Saliva as a viable alternative source of human genomic DNA in genetic epidemiology. Clin. Chim. Acta, 367, 81-85 (2007).
Robinson,W.P., et. al. Origin and outcome of pregnancies affected by androgenetic/biparental chimerism. Hum. Reprod., 22, 1114-1122 (2007).
Rønningen,K.S., et. al. The Biobank of the Norwegian Mother and Child Cohort Study.  Web site only. ISBER 2006 abstract (2007).
Vitazka P. et. al.  Saliva Suitable Specimen Alternative for DNA Genotyping Assays. AMP abstract (2007).
Mishra B. K., et. al. Do motor control genes contribute to interindividual variability in decreased movement in patients with pain? Molecular Pain 3:20 doi:10.1186/1744-8069-3-20 (2007).
Bellgrove et al. Dopaminergic genotype biases spatial attention in healthy children Mol Psych, 12, 786-792 (2007).
Rogers,N.L., Cole,S., Lan,H.-C., Crossa,A., & Demerath,E.W. New saliva DNA collection method compared to buccal cell collection techniques for epidemiological studies. American Journal of Human Biology 19, 319-326 (2007).
Amre, D.K. et al. Association between genetic variants in the IL-23R gene and early-onset Crohn's Disease: Results from a case-control and family-based study among Canadian Children. Am J Gastroenterol. 103(3): 615-20 (2007).
Azmanov, D.N. et al. Persistence of the common Hartnup disease D173N allele in populations of European origin. Ann Hum Genet  71(6): 755-761 (2007).
Berends, A. L. et al. STOX1 gene in pre-eclampsia and intrauterine growth restriction. BJOG 114(9): 1163-1167 (2007).
Berteau-Pavy, F. et al. Effects of sex and APOE epsilon4 on object recognition and spatial navigation in the elderly. Neuroscience 147 (1): 6-17 (2007).
Bondy, C. A. et al. The physical phenotype of girls and women with Turner syndrome is not X-imprinted. Hum Genet 121 (3-4): 469-474 (2007).
Ester, A. R. et al. Apoptotic gene analyisis in idiopathic talipes equinovarus (clubfoot). Clin Orthop Relat Res 462: 32-37 (2007).
Lachman, H. M. et al. Increase in GSK3beta gene copy number variation in bipolar disorder. Am. J. Med. Genet. B. Neuropsychiatr Genet. 144(3): 259-265 (2007).
Lichtenstein, P. et al. The Swedish twin study of child and adolescent development: the TCHAD-study. Twin Res Hum Genet. 10(1): 67-73 (2007).
Orr-Urtreger, A. et al. The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: Is there a gender effect? Neurology 69(16): 1595-1602 (2007).
Orr, A. et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferease, are causal for Schnyder cristalline corneal dystrophy. PLoS ONE 2(1):e685 (2007).
Ellis, M. et al. Analysis of the 5q31–33 Locus Shows an Association between Single Nucleotide Polymorphism Variants in the IL-5 Gene and Symptomatic Infection with the Human Blood Fluke, Schistosoma japonicum. The Journal of Immuno. 179: 8366-8371 (2007).
Pauline, L. et al. SLC40A1 c.1402GA Results in Aberrant Splicing, Ferroportin Truncation after Glycine 330, and an Autosomal Dominant Hemochromatosis Phenotype. Acta Haematol 118: 237-241 (2007).
Stabley,D.L., et. al. Evaluation of STR-PCR and SNP-pyrosequencing for forensic and biomedical monitoring (2007).
2006
Ahituv, N., et. al. A PYY Q62P variant linked to human obesity. Hum. Mol. Genet. 15, 387-391 (2006).
Evans,J.C., et. al. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clin. Genet., 70, 336-338 (2006). 
Lugassy, J., et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am. J. Hum. Genet., 79, 724-730 (2006).
Ng,D.P., Koh,D., Choo,S., & Chia,K.S. Saliva as a viable alternative source of human genomic DNA in genetic epidemiology. Clin. Chim. Acta 367, 81-85 (2006).
Rylander-Rudqvist,T., Hakansson,N., Tybring,G., & Wolk,A. Quality and quantity of saliva DNA obtained from the self-administrated Oragene•DNA method--a pilot study on the cohort of Swedish men. Cancer Epidemiol. Biomarkers Prev. 15, 1742-1745 (2006).
Self,J.E. et al. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3. Mol. Vis. 12, 1211-1216 (2006).
Shaw,R.J., kufo-Tetteh,E.K., Risk,J.M., Field,J.K., & Liloglou,T. Methylation enrichment pyrosequencing: combining the specificity of MSP with validation by pyrosequencing. Nucleic Acids Res. 34, e78 (2006).
Vastinsalo, H. et al. Two Finnish USH1B patients with three novel mutations in myosin VIIA. Mol Vis. 12: 1093-1097 (2006).
2005
McCready,M.E., et. al. A century later Farabee has his mutation. Hum. Genet., 117, 285-287 (2005).
Weng,L., et. al. Lack of MEF2A mutations in coronary artery disease. J. Clin. Invest., 115, 1016-1020 (2005).
 
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Melissa Boweman, Technologist
Plexagen Diagnostics Ltd.

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