Publications

In Press

Ameziane N, Rooimans M, Oostra A, Balk J, Rockx D, Joenje H, Dorsman JC, May P, Li H, Roach JC et al.. In Press. A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51.. Nature Communications.

2016

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC et al.. 2016. Parent-of-origin-specific signatures of de novo mutations.. Nat Genet. 48(8):935-9.

Stittrich AB, Ashworth J, Shi M, Robinson M, Mauldin D, Brunkow ME, Biswas S, Kim J-M, Kwon K-S, Jung JU et al.. 2016. Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.. Hum Genome Var. 3:15060.

Qin S, Zhou Y, Gray L, Kusebauch U, McEvoy L, Antoine DJ, Hampson L, Park KB, Campbell D, Caballero J et al.. 2016. Identification of Organ-Enriched Protein Biomarkers of Acute Liver Injury by Targeted Quantitative Proteomics of Blood in Acetaminophen- and Carbon-Tetrachloride-Treated Mouse Models and Acetaminophen Overdose Patients.. J Proteome Res. 15(10):3724-3740.

Dinov ID, Heavner B, Tang M, Glusman G, Chard K, Darcy M, Madduri R, Pa J, Spino C, Kesselman C et al.. 2016. Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations.. PLoS One. 11(8):e0157077.

McDonald D, Glusman G, Price ND. 2016. Personalized nutrition through big data.. Nat Biotechnol. 34(2):152-4.

Konkel MK, Ullmer B, Arceneaux EL, Sanampudi S, Brantley SA, Hubley R, Smit AFA, Batzer MA. 2016. Discovery of a new repeat family in the Callithrix jacchus genome.. Genome Res. 26(5):649-59.

Hubley R, Finn RD, Clements J, Eddy SR, Jones TA, Bao W, Smit AFA, Wheeler TJ. 2016. The Dfam database of repetitive DNA families.. Nucleic Acids Res. 44(D1):D81-9.

2015

Toga AW, Foster I, Kesselman C, Madduri R, Chard K, Deutsch EW, Price ND, Glusman G, Heavner BD, Dinov ID et al.. 2015. Big biomedical data as the key resource for discovery science.. J Am Med Inform Assoc. 22(6):1126-31.

Robinson M, Wong WSW, Solomon BD, Vockley JG, Schmulevich I, Glusman G, Niederhuber JE. 2015. A new population structure analysis approach specifically designed for whole genome sequence data. American Society for Human Genetics.

Pages