Publications

Found 198 results
Author Title Type [ Year(Asc)]
2016
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.
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.
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.
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.
McDonald D, Glusman G, Price ND.  2016.  Personalized nutrition through big data.. Nat Biotechnol. 34(2):152-4.
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.
2015
Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G et al..  2015.  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.. PLoS One. 10(5):e0127045.
Glusman G, Kramer R, Deutsch EW, Foster I, Kesselman C, Madduri R, Chard K, Heavner BD, Dinov ID, Ames J et al..  2015.  BDQC: a general-purpose analytics validation tool for Big Data Discovery Science. . American Society for Human Genetics.
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.
Bernard B, Slagel J, Elasady SR, Black A, Glusman G, Eley G, Vockley JG, Schmulevich I, Niederhuber JE.  2015.  Big Data Warehouse for Large Scale Genomics. American Society for Human Genetics.
Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G et al..  2015.  Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.. PLoS One. 10(8):e0137370.
Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F et al..  2015.  Crowdsourced direct-to-consumer genomic analysis of a family quartet.. BMC Genomics. 16:910.
Glusman G, Roach JC, Solomon B.  2015.  Diagnosis: RUNX3 deletion. RUNX2015 Conference.
Roach JC.  2015.  Family Genomics of Bipolar Disorder. NIH Neuroscience Seminar Series.
Buddhavarapu P, Smit AF, Prozzi JA.  2015.  A fully Bayesian before-after analysis of permeable friction course (PFC) pavement wet weather safety.. Accid Anal Prev. 80:89-96.
He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A et al..  2015.  A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.. J Invest Dermatol. 135(3):907-9.
Basset D, Boycott K, Bustamante CD, Cooper D, Eley G, Furmanski L, Glusman G, Goldstein D, Hegde M, Hieter P et al..  2015.  Genomic Crowdsourcing: Allele Frequency Community Provides Expansive, Ethnically Diverse, Freely Available Community Resource for Allele Frequency Annotation. . American Society for Human Genetics.
Meester JAN, Southgate L, Stittrich A-B, Venselaar H, Beekmans SJA, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JBGM, Glusman G et al..  2015.  Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.. Am J Hum Genet. 97(3):475-82.
Meester JAN, Southgate L, Stittrich AB, Venselaar H, Beekmans SJA, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JBGM, Glusman G et al..  2015.  Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver Syndrome. . American Society for Human Genetics.
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.
Farrah T, Mauldin DE, Clegg N, Robinson M, Vockley JG, Niederhuber JE, Hood LE, Glusman G.  2015.  Kaviar: a comprehensive public catalog of human variant and genotype frequencies. . American Society for Human Genetics.
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.
Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H et al..  2015.  A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.. Nat Commun. 6:8829.

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