Found 45 results
Filters: Author is Glusman, G.  [Clear All Filters]
Li H, Glusman G, Huff C., Caballero J, Roach JC.  2014.  Accurate and robust prediction of genetic relationship from whole-genome sequences. PloS one. 9:e85437.
Lehman A, Stittrich A-B, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M.  2014.  Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.. Am J Med Genet A. 164A(10):2656-62.
He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A et al..  2014.  A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family.. J Invest Dermatol.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN et al..  2014.  An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.. Genome Biol. 15(3):R53.
Stittrich A-B, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG et al..  2014.  Mutations in NOTCH1 cause Adams-Oliver syndrome.. Am J Hum Genet. 95(3):275-84.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CGF et al..  2014.  Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.. Nat Genet. 46(12):1327-32.
Lalli MA, Cox HC, Arcila ML, Cadavid L, Moreno S, Garcia G, Madrigal L, Reiman EM, Arcos-Burgos M, Bedoya G et al..  2014.  Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.. Alzheimers Dement. 10(5 Suppl):S277-S283.e10.
Caballero J, Smit AFA, Hood L, Glusman G.  2014.  Realistic artificial DNA sequences as negative controls for computational genomics.. Nucleic Acids Res. 42(12):e99.
Li H, Glusman G, Hu H, , Caballero J, Hubley R, Witherspoon D., Guthery S.L, Mauldin DE, Jorde LB et al..  2014.  Relationship estimation from whole-genome sequence data. PLoS genetics. 10:e1004144.
Krishna A, Biryukov M, Trefois C, Antony PMA, Hussong R, Lin J, Heinäniemi M, Glusman G, Köglsberger S, Boyd O et al..  2014.  Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease.. BMC Genomics. 15:1154.
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Tavtigian SV, Wu W et al..  2014.  A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.. Nat Biotechnol. 32(7):663-9.
Hu H, Roach JC, Coon H., Guthery S.L, Voelkerding K.V, Margraf R.L, Durtschi J.D, Tavtigian SV, , Wu W. et al..  2014.  A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nature biotechnology.
Glusman G, Cox HC, Roach JC.  2014.  Whole-genome haplotyping approaches and genomic medicine.. Genome Med. 6(9):73.
Gierman HJ, Fortney K, Roach JC, Coles NS, Li H, Glusman G, Markov GJ, Smith JD, Hood L, L Coles S et al..  2014.  Whole-genome sequencing of the world's oldest people.. PLoS One. 9(11):e112430.
Glusman G, Smit A.  2009.  Genome organization. Encyclopedia of Complexity and Systems Science. 4:4160-4178.
Kutlu B, Kayali AG, Jung S, Parnaud G, Baxter D, Glusman G, Goodman N, Behie LA, Hayek A, Hood L.  2009.  Meta-analysis of gene expression in human pancreatic islets after in vitro expansion. Physiol Genomics. 39:72-81.