Publications

Found 76 results
Author Title Type [ Year(Asc)]
Filters: Author is Glusman, Gustavo  [Clear All Filters]
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.
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 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.
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.
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.
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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