Publications
- Genome Analysis Publications
- Rare structural variation of synapse and neurotransmission genes in autism.
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Mol Psychiatry. 2011 Mar 1.
- Potential of human umbilical cord blood mesenchymal stem cells to heal damaged corneal endothelium.
Joyce NC, Harris DL, Markov V, Zhang Z, Saitta B. Mol Vis. 2012;18:547-64. Epub 2012 Mar 2.
- Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans.
Polyak E, Zhang Z, Falk MJ. Methods Mol Biol. 2012;837:241-55.
- Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ. BMC Bioinformatics. 2011 Oct 19;12:402.
- Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. Congenital Heart Disease. 2011 Nov-Dec;6(6):592-602.
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H. Nat Genet. 2011 Dec 4;44(1):78-84.
- Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes.
Shi L, Perin JC, Leipzig J, Zhang Z, Sullivan KE. Gene. 2011 Nov 1;487(1):21-8. Epub 2011 Jul 19.
- DNA methylation is associated with altered gene expression in AMD
Hunter A, Spechler PA, Cwanger A, Song Y, Zhang Z, Ying GS, Hunter AK, Dezoeten E, Dunaief JL. Invest Ophthalmol Vis Sci. 2012 Apr 24;53(4):2089-105.
- Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines.
Zhang Z, Liu J, Kaur M, Krantz ID. Genomics. 2012 Jan 15
- Data Reporting and Management Publications
- Medically Underserved Girls Receive Less Evaluation for Short Stature.
Grundmeier RW, Swietlik M, Bell LM. Pediatrics. 2011 Apr;127(4):696-702
- Blood Cultures in the Emergency Department Evaluation of Childhood Pneumonia.
Shah SS, Dugan MH, Bell LM, Grundmeier RW, Florin TA, Hines EM, Metlay JP. Pediatr Infect Dis J. 2011 Jun;30(6):475-9
- Identifying factors predicting immunization delay for children followed in an urban primary care network using an electronic health record
Fiks AG, Alessandrini EA, Luberti AA, Ostapenko S, Zhang X, Silber JH. Pediatrics. 2006 Dec;118(6):e1680-6.
- Validation of a Pediatric Primary Care Network in a US Metropolitan Region as a Community-Based Infectious Disease Surveillance System.
Feemster KA, Li Y, Grundmeier R, Localio AR, Metlay JP. Interdiscip Perspect Infect Dis. Epub 2011 Dec 7.
- Asthma outcomes: healthcare utilization and costs.
Akinbami LJ, Sullivan SD, Campbell JD, Grundmeier RW, Hartert TV, Lee TA, Smith RA. J Allergy Clin Immunol. 2012 Mar;129(3 Suppl):S49-64.
- Comparative Effectiveness Research Using the Electronic Medical Record: An Emerging Area of Investigation in Pediatric Primary Care.
Fiks AG, Grundmeier RW, Margolis B, Bell LM, Steffes J, Massey J, Wasserman RC. J Pediatr. 2012 May;160(5):719-24. Epub 2012 Feb 24.
- Application Development Publications
- CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
Gai X, Perin JC, Murphy K, O'Hara R, D'arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS. BMC Bioinformatics. 2010 Feb 4;11:74
- High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. Genome Res. 2009 Sep;19(9):1682-90.
- Electronic health record-based decision support to improve asthma care: a cluster-randomized trial.
Bell LM, Grundmeier R, Localio R, Zorc J, Fiks AG, Zhang X, Stephens TB, Swietlik M, Guevara JP. Pediatrics. 2010 Apr;125(4):e770-7.
- Research subject enrollment by primary care pediatricians using an electronic health record.
Grundmeier RW, Swietlik M, Bell LM. AMIA Annu Symp Proc. 2007 Oct 11:289-93.
- Impact of immunization at sick visits on well-child care.
Fiks AG, Hunter KF, Localio AR, Grundmeier RW, Alessandrini EA.Pediatrics. 2008 May;121(5):898-905.
- Impact of electronic health record-based alerts on influenza vaccination for children with asthma.
Fiks AG, Hunter KF, Localio AR, Grundmeier RW, Bryant-Stephens T, Luberti AA, Bell LM, Alessandrini EA. Pediatrics. 2009 Jul;124(1):159-69.
- Balancing entrepreneurship and business practices for e-collaboration: responsible information sharing in academic research.
Porter MW, Milley D, Oliveti K, Ladd A, O'Hara RJ, Desai BR, White PS. AMIA Annu Symp Proc. 2008 Nov 6:1100.
