New publications will continue to be added to this site as they become available. Check back often for the latest material or email us to receive our quarterly newsletter.

Ahituv,N. et al. A PYY Q62P variant linked to human obesity. Hum. Mol. Genet. 15, 387-391 (2006).

Daksis,J.I. & Erikson,G.H. Heteropolymeric triplex-based genomic assay(r) to detect pathogens or single-nucleotide polymorphisms in human genomic samples. PLoS ONE 2, e305 (2007).

Evans,J.C., Archer,H.L., Whatley,S.D., & Clarke,A. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clin. Genet. 70, 336-338 (2006).

Infante-Rivard,C., Vermunt,J.K., & Weinberg,C.R. 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, 1248-1254 (2007).

Jin,Y. et al. NALP1 in vitiligo-associated multiple autoimmune disease. N. Engl. J. Med. 356, 1216-1225 (2007).

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).

McCready,M.E., Grimsey,A., Styer,T., Nikkel,S.M., & Bulman,D.E. A century later Farabee has his mutation. Hum. Genet. 117, 285-287 (2005).

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).

Robinson,W.P. et al. Origin and outcome of pregnancies affected by androgenetic/biparental chimerism. Hum. Reprod. 22, 1114-1122 (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).

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).

Weng,L. et al. Lack of MEF2A mutations in coronary artery disease. J. Clin. Invest. 115, 1016-1020 (2005).

Posters

SNP Genotyping of Saliva and DNA using Affymetrix® GeneChip® Targeted Genotyping System (pdf)
Saliva DNA that is extracted with Oragene•DNA performs equivalent to or better than blood extracted DNA when used in the Affymetrix Targeted Genotyping assay.

Comprehensive Gene Sequence Analysis from Bloodspot and Saliva DNA (pdf)
DNA yield from 250 µl of saliva is similar to yield from 1 ml of whole blood, and resulted in similar performance with the Ambry Genetics TTGE and sequencing protocols.