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

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.

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.

2015

Glusman G, Severson A, Dhankani V, Robinson M, Farrah T, Mauldin DE, Stittrich AB, Ament SA, Roach JC, Brunkow ME et al.. 2015. Identification of copy number variants in whole-genome data using Reference Coverage Profiles.. Front Genet. 6:45.

Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Brunkow ME, Mauldin DE et al.. 2015. Rare variants in neuronal excitability genes influence risk for bipolar disorder.. Proc Natl Acad Sci U S A. 112(11):3576-81.

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